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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: 18-58390667-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58390667&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NEDD4L",
"hgnc_id": 7728,
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Glu1172Lys",
"inheritance_mode": "AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_001437337.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9941,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "18",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " cleft palate and developmental delay, distal,Chromosome 5Q14.3 deletion syndrome,Periventricular nodular heterotopia 7,Periventricular nodular heterotopia with syndactyly,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8832600116729736,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 975,
"aa_ref": "E",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8633,
"cdna_start": 3112,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001144967.3",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Glu893Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400345.8",
"protein_coding": true,
"protein_id": "NP_001138439.1",
"strand": true,
"transcript": "NM_001144967.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 975,
"aa_ref": "E",
"aa_start": 893,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8633,
"cdna_start": 3112,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2677,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000400345.8",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2677G>A",
"hgvs_p": "p.Glu893Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001144967.3",
"protein_coding": true,
"protein_id": "ENSP00000383199.2",
"strand": true,
"transcript": "ENST00000400345.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 967,
"aa_ref": "E",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3543,
"cdna_start": 2856,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2653,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000357895.9",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Glu885Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350569.4",
"strand": true,
"transcript": "ENST00000357895.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 955,
"aa_ref": "E",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8251,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000382850.8",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2617G>A",
"hgvs_p": "p.Glu873Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372301.3",
"strand": true,
"transcript": "ENST00000382850.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 947,
"aa_ref": "E",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 2792,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2593,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000586263.5",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2593G>A",
"hgvs_p": "p.Glu865Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468546.1",
"strand": true,
"transcript": "ENST00000586263.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 911,
"aa_ref": "E",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3335,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000356462.10",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Glu829Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348847.5",
"strand": true,
"transcript": "ENST00000356462.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 854,
"aa_ref": "E",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3338,
"cdna_start": 2778,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000431212.6",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Glu772Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389406.1",
"strand": true,
"transcript": "ENST00000431212.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 854,
"aa_ref": "E",
"aa_start": 772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8436,
"cdna_start": 2914,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2314,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000456986.5",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2314G>A",
"hgvs_p": "p.Glu772Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411947.1",
"strand": true,
"transcript": "ENST00000456986.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 834,
"aa_ref": "E",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 2884,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000435432.6",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393395.1",
"strand": true,
"transcript": "ENST00000435432.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 834,
"aa_ref": "E",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2839,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000456173.6",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Glu752Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405440.1",
"strand": true,
"transcript": "ENST00000456173.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "E",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9160,
"cdna_start": 3639,
"cds_end": null,
"cds_length": 3765,
"cds_start": 3514,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001437337.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Glu1172Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424266.1",
"strand": true,
"transcript": "NM_001437337.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "E",
"aa_start": 1172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": 3715,
"cds_end": null,
"cds_length": 3765,
"cds_start": 3514,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000635997.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.3514G>A",
"hgvs_p": "p.Glu1172Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490696.1",
"strand": true,
"transcript": "ENST00000635997.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 967,
"aa_ref": "E",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8390,
"cdna_start": 2869,
"cds_end": null,
"cds_length": 2904,
"cds_start": 2653,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001144968.2",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2653G>A",
"hgvs_p": "p.Glu885Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138440.1",
"strand": true,
"transcript": "NM_001144968.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 955,
"aa_ref": "E",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8573,
"cdna_start": 3052,
"cds_end": null,
"cds_length": 2868,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_015277.6",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2617G>A",
"hgvs_p": "p.Glu873Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056092.2",
"strand": true,
"transcript": "NM_015277.6",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 948,
"aa_ref": "E",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": 3244,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000675147.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2596G>A",
"hgvs_p": "p.Glu866Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501840.1",
"strand": true,
"transcript": "ENST00000675147.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 947,
"aa_ref": "E",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8330,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 2844,
"cds_start": 2593,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001144969.2",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2593G>A",
"hgvs_p": "p.Glu865Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138441.1",
"strand": true,
"transcript": "NM_001144969.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 942,
"aa_ref": "E",
"aa_start": 860,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4739,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2578,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000676223.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2578G>A",
"hgvs_p": "p.Glu860Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502361.1",
"strand": true,
"transcript": "ENST00000676223.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 930,
"aa_ref": "E",
"aa_start": 848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": 2648,
"cds_end": null,
"cds_length": 2793,
"cds_start": 2542,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000675221.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2542G>A",
"hgvs_p": "p.Glu848Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502761.1",
"strand": true,
"transcript": "ENST00000675221.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 911,
"aa_ref": "E",
"aa_start": 829,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8441,
"cdna_start": 2920,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2485,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001243960.2",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2485G>A",
"hgvs_p": "p.Glu829Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230889.1",
"strand": true,
"transcript": "NM_001243960.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 889,
"aa_ref": "E",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5201,
"cdna_start": 3030,
"cds_end": null,
"cds_length": 2670,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000936802.1",
"gene_hgnc_id": 7728,
"gene_symbol": "NEDD4L",
"hgvs_c": "c.2419G>A",
"hgvs_p": "p.Glu807Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606861.1",
"strand": true,
"transcript": "ENST00000936802.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 871,
"aa_ref": "E",
"aa_start": 789,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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