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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: 13-76995980-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=76995980&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "CLN5",
"hgnc_id": 2076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_006493.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"stop_gained"
],
"gene_symbol": "ENSG00000283208",
"hgnc_id": null,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"inheritance_mode": "",
"pathogenic_score": 11,
"score": 11,
"transcript": "ENST00000638147.2",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"intron_variant"
],
"gene_symbol": "FBXL3",
"hgnc_id": 13599,
"hgvs_c": "n.174-3029G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "ENST00000485797.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.66,
"chr": "13",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Neuronal ceroid lipofuscinosis 5",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1077,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006493.4",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377453.9",
"protein_coding": true,
"protein_id": "NP_006484.2",
"strand": true,
"transcript": "NM_006493.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1077,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000377453.9",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006493.4",
"protein_coding": true,
"protein_id": "ENSP00000366673.5",
"strand": true,
"transcript": "ENST00000377453.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 358,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6664,
"cdna_start": 1857,
"cds_end": null,
"cds_length": 1077,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636183.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490181.2",
"strand": true,
"transcript": "ENST00000636183.2",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 201,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 439,
"cds_end": null,
"cds_length": 606,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000638147.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490953.2",
"strand": true,
"transcript": "ENST00000638147.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 303,
"aa_ref": "Q",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 254,
"cds_end": null,
"cds_length": 912,
"cds_start": 253,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636705.1",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.253C>T",
"hgvs_p": "p.Gln85*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490937.1",
"strand": true,
"transcript": "ENST00000636705.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 273,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5060,
"cdna_start": 430,
"cds_end": null,
"cds_length": 822,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000637397.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490422.2",
"strand": true,
"transcript": "ENST00000637397.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 270,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 421,
"cds_end": null,
"cds_length": 813,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636525.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490078.2",
"strand": true,
"transcript": "ENST00000636525.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 248,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 419,
"cds_end": null,
"cds_length": 747,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636767.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489855.2",
"strand": true,
"transcript": "ENST00000636767.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 207,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 426,
"cds_end": null,
"cds_length": 624,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000616833.6",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479547.3",
"strand": true,
"transcript": "ENST00000616833.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 197,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5286,
"cdna_start": 436,
"cds_end": null,
"cds_length": 594,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001366624.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353553.1",
"strand": true,
"transcript": "NM_001366624.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 197,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 473,
"cds_end": null,
"cds_length": 594,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000636780.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489809.2",
"strand": true,
"transcript": "ENST00000636780.2",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 197,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 439,
"cds_end": null,
"cds_length": 594,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000637537.2",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489711.2",
"strand": true,
"transcript": "ENST00000637537.2",
"transcript_support_level": 4
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 191,
"aa_ref": "Q",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2341,
"cdna_start": 458,
"cds_end": null,
"cds_length": 576,
"cds_start": 418,
"consequences": [
"stop_gained"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000485938.4",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Gln140*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482959.3",
"strand": true,
"transcript": "ENST00000485938.4",
"transcript_support_level": 2
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 75,
"aa_ref": "Q",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2645,
"cdna_start": 22,
"cds_end": null,
"cds_length": 228,
"cds_start": 22,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000638101.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "c.22C>T",
"hgvs_p": "p.Gln8*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490535.1",
"strand": true,
"transcript": "ENST00000638101.1",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 70,
"aa_ref": "Q",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 27,
"cds_end": null,
"cds_length": 213,
"cds_start": 25,
"consequences": [
"stop_gained"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000635838.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000283208",
"hgvs_c": "c.25C>T",
"hgvs_p": "p.Gln9*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490835.1",
"strand": true,
"transcript": "ENST00000635838.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000635905.1",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "n.419C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000635905.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000635915.1",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "n.*39C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490560.1",
"strand": true,
"transcript": "ENST00000635915.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 604,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000635989.1",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "n.485C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000635989.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5889,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636520.1",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "n.1930C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000636520.1",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 661,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000636602.1",
"gene_hgnc_id": 2076,
"gene_symbol": "CLN5",
"hgvs_c": "n.364C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000636602.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
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}