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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: 5-75381950-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=75381950&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 75381950,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000643780.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"transcript": "NM_001379029.1",
"protein_id": "NP_001365958.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 624,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": "ENST00000643780.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"transcript": "ENST00000643780.2",
"protein_id": "ENSP00000495760.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 624,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 3868,
"mane_select": "NM_001379029.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"transcript": "ENST00000261415.12",
"protein_id": "ENSP00000261415.8",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 624,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.2000C>T",
"hgvs_p": "p.Pro667Leu",
"transcript": "NM_001130105.1",
"protein_id": "NP_001123577.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 752,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2137,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.2000C>T",
"hgvs_p": "p.Pro667Leu",
"transcript": "ENST00000405807.10",
"protein_id": "ENSP00000383996.4",
"transcript_support_level": 5,
"aa_start": 667,
"aa_end": null,
"aa_length": 752,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2294,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"transcript": "NM_001379002.1",
"protein_id": "NP_001365931.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 624,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"transcript": "NM_005713.3",
"protein_id": "NP_005704.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 624,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 8012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1616C>T",
"hgvs_p": "p.Pro539Leu",
"transcript": "ENST00000644072.2",
"protein_id": "ENSP00000494110.2",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 624,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 8012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "NM_001379004.1",
"protein_id": "NP_001365933.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 605,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000642556.1",
"protein_id": "ENSP00000496016.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 605,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "NM_001379003.1",
"protein_id": "NP_001365932.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 2401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "NM_031361.3",
"protein_id": "NP_112729.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1960,
"cdna_end": null,
"cdna_length": 7934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000644445.1",
"protein_id": "ENSP00000496243.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000645483.1",
"protein_id": "ENSP00000493563.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000646511.1",
"protein_id": "ENSP00000495446.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1969,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Pro511Leu",
"transcript": "ENST00000642809.1",
"protein_id": "ENSP00000494804.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 596,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1627,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1532C>T",
"hgvs_p": "p.Pro511Leu",
"transcript": "ENST00000646713.1",
"protein_id": "ENSP00000494968.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 596,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1538C>T",
"hgvs_p": "p.Pro513Leu",
"transcript": "ENST00000644912.1",
"protein_id": "ENSP00000495172.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 584,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1617,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1445C>T",
"hgvs_p": "p.Pro482Leu",
"transcript": "ENST00000645866.1",
"protein_id": "ENSP00000494424.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 567,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1442C>T",
"hgvs_p": "p.Pro481Leu",
"transcript": "ENST00000643158.1",
"protein_id": "ENSP00000496462.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 566,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1313C>T",
"hgvs_p": "p.Pro438Leu",
"transcript": "ENST00000380494.10",
"protein_id": "ENSP00000369862.5",
"transcript_support_level": 2,
"aa_start": 438,
"aa_end": null,
"aa_length": 523,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 4654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERT1",
"gene_hgnc_id": 2205,
"hgvs_c": "c.1358C>T",
"hgvs_p": "p.Pro453Leu",
"transcript": "ENST00000644377.1",
"protein_id": "ENSP00000494810.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 520,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1563,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -11,
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"pathogenic_score": 1,
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"BP6_Very_Strong",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000643780.2",
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"effects": [
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],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}