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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: 15-68208254-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=68208254&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 68208254,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001411068.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.822G>T",
"hgvs_p": "p.Ala274Ala",
"transcript": "NM_017882.3",
"protein_id": "NP_060352.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 311,
"cds_start": 822,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249806.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017882.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.822G>T",
"hgvs_p": "p.Ala274Ala",
"transcript": "ENST00000249806.11",
"protein_id": "ENSP00000249806.5",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 311,
"cds_start": 822,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017882.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249806.11"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.723G>T",
"hgvs_p": "p.Ala241Ala",
"transcript": "ENST00000637667.1",
"protein_id": "ENSP00000489843.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 250,
"cds_start": 723,
"cds_end": null,
"cds_length": 755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637667.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.633G>T",
"hgvs_p": "p.Ala211Ala",
"transcript": "ENST00000566347.5",
"protein_id": "ENSP00000457783.1",
"transcript_support_level": 1,
"aa_start": 211,
"aa_end": null,
"aa_length": 248,
"cds_start": 633,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566347.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260007",
"gene_hgnc_id": null,
"hgvs_c": "c.84-10626G>T",
"hgvs_p": null,
"transcript": "ENST00000562767.2",
"protein_id": "ENSP00000456336.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": null,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562767.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*425G>T",
"hgvs_p": null,
"transcript": "ENST00000638076.1",
"protein_id": "ENSP00000490373.1",
"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": "ENST00000638076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*425G>T",
"hgvs_p": null,
"transcript": "ENST00000638076.1",
"protein_id": "ENSP00000490373.1",
"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": "ENST00000638076.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Ala306Ala",
"transcript": "NM_001411068.1",
"protein_id": "NP_001397997.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 343,
"cds_start": 918,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411068.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.918G>T",
"hgvs_p": "p.Ala306Ala",
"transcript": "ENST00000538696.5",
"protein_id": "ENSP00000445770.1",
"transcript_support_level": 2,
"aa_start": 306,
"aa_end": null,
"aa_length": 343,
"cds_start": 918,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538696.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.897G>T",
"hgvs_p": "p.Ala299Ala",
"transcript": "ENST00000913237.1",
"protein_id": "ENSP00000583296.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 336,
"cds_start": 897,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913237.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.783G>T",
"hgvs_p": "p.Ala261Ala",
"transcript": "ENST00000856075.1",
"protein_id": "ENSP00000526134.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 298,
"cds_start": 783,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856075.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.582G>T",
"hgvs_p": "p.Ala194Ala",
"transcript": "ENST00000913238.1",
"protein_id": "ENSP00000583297.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 231,
"cds_start": 582,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913238.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.534G>T",
"hgvs_p": "p.Ala178Ala",
"transcript": "ENST00000637494.1",
"protein_id": "ENSP00000490057.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 215,
"cds_start": 534,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637494.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.363G>T",
"hgvs_p": "p.Ala121Ala",
"transcript": "ENST00000565471.6",
"protein_id": "ENSP00000457384.1",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 158,
"cds_start": 363,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565471.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.324G>T",
"hgvs_p": "p.Ala108Ala",
"transcript": "ENST00000971147.1",
"protein_id": "ENSP00000641206.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 145,
"cds_start": 324,
"cds_end": null,
"cds_length": 438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971147.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "c.240G>T",
"hgvs_p": "p.Ala80Ala",
"transcript": "ENST00000856076.1",
"protein_id": "ENSP00000526135.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 117,
"cds_start": 240,
"cds_end": null,
"cds_length": 354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856076.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*220G>T",
"hgvs_p": null,
"transcript": "ENST00000567060.5",
"protein_id": "ENSP00000454818.1",
"transcript_support_level": 2,
"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": "ENST00000567060.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*725G>T",
"hgvs_p": null,
"transcript": "ENST00000635747.1",
"protein_id": "ENSP00000490627.1",
"transcript_support_level": 5,
"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": "ENST00000635747.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*492G>T",
"hgvs_p": null,
"transcript": "ENST00000636212.1",
"protein_id": "ENSP00000489851.1",
"transcript_support_level": 5,
"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": "ENST00000636212.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.1924G>T",
"hgvs_p": null,
"transcript": "ENST00000636674.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000636674.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.2350G>T",
"hgvs_p": null,
"transcript": "ENST00000636964.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000636964.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN6",
"gene_hgnc_id": 2077,
"hgvs_c": "n.*532G>T",
"hgvs_p": null,
"transcript": "ENST00000637329.1",
"protein_id": "ENSP00000489649.1",
"transcript_support_level": 5,
"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": "ENST00000637329.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001411068.1",
"gene_symbol": "CLN6",
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"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Ala306Ala"
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000562767.2",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.84-10626G>T",
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}
],
"clinvar_disease": "Neuronal ceroid lipofuscinosis",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Neuronal ceroid lipofuscinosis",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}