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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: 8-11853379-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11853379&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11853379,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000353047.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001908.5",
"protein_id": "NP_001899.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "ENST00000353047.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000353047.11",
"protein_id": "ENSP00000345672.5",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 3733,
"mane_select": "NM_001908.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000533455.6",
"protein_id": "ENSP00000432244.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2055,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "n.76C>T",
"hgvs_p": null,
"transcript": "ENST00000531551.5",
"protein_id": "ENSP00000436456.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.-178C>T",
"hgvs_p": null,
"transcript": "NM_001317237.2",
"protein_id": "NP_001304166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000505496.7",
"protein_id": "ENSP00000435650.2",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 371,
"cds_start": 76,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000526195.6",
"protein_id": "ENSP00000436627.2",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 371,
"cds_start": 76,
"cds_end": null,
"cds_length": 1116,
"cdna_start": 188,
"cdna_end": null,
"cdna_length": 1967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000678598.1",
"protein_id": "ENSP00000503734.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 356,
"cds_start": 76,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 3786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384714.1",
"protein_id": "NP_001371643.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 4480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384723.1",
"protein_id": "NP_001371652.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384724.1",
"protein_id": "NP_001371653.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384725.1",
"protein_id": "NP_001371654.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 3915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384726.1",
"protein_id": "NP_001371655.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384727.1",
"protein_id": "NP_001371656.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 3841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_001384728.1",
"protein_id": "NP_001371657.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 271,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_147780.4",
"protein_id": "NP_680090.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 3895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_147781.4",
"protein_id": "NP_680091.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 3852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_147782.4",
"protein_id": "NP_680092.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "NM_147783.4",
"protein_id": "NP_680093.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 3807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000345125.8",
"protein_id": "ENSP00000342070.3",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000526645.6",
"protein_id": "ENSP00000431518.2",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000527215.7",
"protein_id": "ENSP00000433379.3",
"transcript_support_level": 4,
"aa_start": 26,
"aa_end": null,
"aa_length": 339,
"cds_start": 76,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSB",
"gene_hgnc_id": 2527,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu",
"transcript": "ENST00000527243.6",
"protein_id": "ENSP00000434725.2",
"transcript_support_level": 4,
"aa_start": 26,
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}
],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6499999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.537,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BS2",
"acmg_by_gene": [
{
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"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000353047.11",
"gene_symbol": "CTSB",
"hgnc_id": 2527,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Leu26Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}