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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: 15-55834118-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55834118&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 55834118,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001284338.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Asp784His",
"transcript": "NM_006154.4",
"protein_id": "NP_006145.2",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 900,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435532.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006154.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Asp784His",
"transcript": "ENST00000435532.8",
"protein_id": "ENSP00000410613.3",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 900,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006154.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435532.8"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3607G>C",
"hgvs_p": "p.Asp1203His",
"transcript": "ENST00000508342.5",
"protein_id": "ENSP00000424827.1",
"transcript_support_level": 1,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508342.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3559G>C",
"hgvs_p": "p.Asp1187His",
"transcript": "ENST00000506154.1",
"protein_id": "ENSP00000422705.1",
"transcript_support_level": 1,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3559,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506154.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3391G>C",
"hgvs_p": "p.Asp1131His",
"transcript": "ENST00000338963.6",
"protein_id": "ENSP00000345530.2",
"transcript_support_level": 1,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338963.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2377G>C",
"hgvs_p": "p.Asp793His",
"transcript": "ENST00000508871.5",
"protein_id": "ENSP00000422455.1",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 909,
"cds_start": 2377,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508871.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*1807G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503468.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "n.*1807G>C",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000503468.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3607G>C",
"hgvs_p": "p.Asp1203His",
"transcript": "NM_001284338.2",
"protein_id": "NP_001271267.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 1319,
"cds_start": 3607,
"cds_end": null,
"cds_length": 3960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284338.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3559G>C",
"hgvs_p": "p.Asp1187His",
"transcript": "NM_001284339.1",
"protein_id": "NP_001271268.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3559,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284339.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3556G>C",
"hgvs_p": "p.Asp1186His",
"transcript": "NM_001284340.1",
"protein_id": "NP_001271269.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3556,
"cds_end": null,
"cds_length": 3909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284340.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.3391G>C",
"hgvs_p": "p.Asp1131His",
"transcript": "NM_198400.3",
"protein_id": "NP_940682.2",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3391,
"cds_end": null,
"cds_length": 3744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198400.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2299G>C",
"hgvs_p": "p.Asp767His",
"transcript": "ENST00000954479.1",
"protein_id": "ENSP00000624538.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 883,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954479.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2290G>C",
"hgvs_p": "p.Asp764His",
"transcript": "ENST00000911097.1",
"protein_id": "ENSP00000581156.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 880,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911097.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Asp762His",
"transcript": "ENST00000911094.1",
"protein_id": "ENSP00000581153.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 878,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911094.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2284G>C",
"hgvs_p": "p.Asp762His",
"transcript": "ENST00000911096.1",
"protein_id": "ENSP00000581155.1",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 878,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911096.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2236G>C",
"hgvs_p": "p.Asp746His",
"transcript": "ENST00000911098.1",
"protein_id": "ENSP00000581157.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 862,
"cds_start": 2236,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911098.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2230G>C",
"hgvs_p": "p.Asp744His",
"transcript": "ENST00000932730.1",
"protein_id": "ENSP00000602789.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 860,
"cds_start": 2230,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932730.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2185G>C",
"hgvs_p": "p.Asp729His",
"transcript": "ENST00000954480.1",
"protein_id": "ENSP00000624539.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 845,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954480.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.1909G>C",
"hgvs_p": "p.Asp637His",
"transcript": "NM_001329212.2",
"protein_id": "NP_001316141.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 753,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329212.2"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2275G>C",
"hgvs_p": "p.Asp759His",
"transcript": "XM_011521624.4",
"protein_id": "XP_011519926.1",
"transcript_support_level": null,
"aa_start": 759,
"aa_end": null,
"aa_length": 875,
"cds_start": 2275,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521624.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEDD4",
"gene_hgnc_id": 7727,
"hgvs_c": "c.2197G>C",
"hgvs_p": "p.Asp733His",
"transcript": "XM_011521625.4",
"protein_id": "XP_011519927.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 849,
"cds_start": 2197,
"cds_end": null,
"cds_length": 2550,
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{
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],
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"computational_score_selected": 0.9362978935241699,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.873,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
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"criteria": [
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_001284338.2",
"gene_symbol": "NEDD4",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.3607G>C",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}