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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: 15-68229544-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68229544&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CLN6",
"hgnc_id": 2077,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_017882.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000260007",
"hgnc_id": null,
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000562767.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 179,
"alphamissense_prediction": null,
"alphamissense_score": 0.1414,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 6A, neuronal,Adult neuronal ceroid lipofuscinosis,Ceroid lipofuscinosis,Inborn genetic diseases,Neuronal ceroid lipofuscinosis,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24198535084724426,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 311,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 185,
"cds_end": null,
"cds_length": 936,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_017882.3",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000249806.11",
"protein_coding": true,
"protein_id": "NP_060352.1",
"strand": false,
"transcript": "NM_017882.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 311,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 185,
"cds_end": null,
"cds_length": 936,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000249806.11",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017882.3",
"protein_coding": true,
"protein_id": "ENSP00000249806.5",
"strand": false,
"transcript": "ENST00000249806.11",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 250,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 160,
"cds_end": null,
"cds_length": 755,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000637667.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489843.1",
"strand": false,
"transcript": "ENST00000637667.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 248,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 981,
"cdna_start": 175,
"cds_end": null,
"cds_length": 747,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000566347.5",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457783.1",
"strand": false,
"transcript": "ENST00000566347.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 92,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3389,
"cdna_start": 175,
"cds_end": null,
"cds_length": 279,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000562767.2",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000260007",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456336.1",
"strand": false,
"transcript": "ENST00000562767.2",
"transcript_support_level": 3
},
{
"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": 2323,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000638076.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000490373.1",
"strand": false,
"transcript": "ENST00000638076.1",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 336,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 147,
"cds_end": null,
"cds_length": 1011,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000913237.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583296.1",
"strand": false,
"transcript": "ENST00000913237.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 298,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 149,
"cds_end": null,
"cds_length": 897,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856075.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526134.1",
"strand": false,
"transcript": "ENST00000856075.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 231,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 121,
"cds_end": null,
"cds_length": 696,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000913238.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583297.1",
"strand": false,
"transcript": "ENST00000913238.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 215,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 765,
"cdna_start": 134,
"cds_end": null,
"cds_length": 648,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000637494.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490057.1",
"strand": false,
"transcript": "ENST00000637494.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 213,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 900,
"cdna_start": 166,
"cds_end": null,
"cds_length": 642,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000564752.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457822.1",
"strand": false,
"transcript": "ENST00000564752.1",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 158,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 129,
"cds_end": null,
"cds_length": 477,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000565471.6",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457384.1",
"strand": false,
"transcript": "ENST00000565471.6",
"transcript_support_level": 2
},
{
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"aa_length": 145,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1721,
"cdna_start": 179,
"cds_end": null,
"cds_length": 438,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971147.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641206.1",
"strand": false,
"transcript": "ENST00000971147.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 117,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1596,
"cdna_start": 137,
"cds_end": null,
"cds_length": 354,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000856076.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526135.1",
"strand": false,
"transcript": "ENST00000856076.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 103,
"aa_ref": "G",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 442,
"cdna_start": 157,
"cds_end": null,
"cds_length": 312,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636314.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.41G>A",
"hgvs_p": "p.Gly14Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490295.1",
"strand": false,
"transcript": "ENST00000636314.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": null,
"cds_end": null,
"cds_length": 1032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411068.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.180-10894G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397997.1",
"strand": false,
"transcript": "NM_001411068.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1343,
"cdna_start": null,
"cds_end": null,
"cds_length": 1032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000538696.5",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "c.180-10894G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445770.1",
"strand": false,
"transcript": "ENST00000538696.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 945,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000567060.5",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454818.1",
"strand": false,
"transcript": "ENST00000567060.5",
"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": 894,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636020.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "n.173G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000636020.1",
"transcript_support_level": 2
},
{
"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": 1053,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000636212.1",
"gene_hgnc_id": 2077,
"gene_symbol": "CLN6",
"hgvs_c": "n.41G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489851.1",
"strand": false,
"transcript": "ENST00000636212.1",
"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": 3238,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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}