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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: 15-40416290-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40416290&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40416290,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000487418.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"transcript": "NM_002225.5",
"protein_id": "NP_002216.3",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 423,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": "ENST00000487418.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"transcript": "ENST00000487418.8",
"protein_id": "ENSP00000418397.3",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 423,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 4350,
"mane_select": "NM_002225.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Asp326Asn",
"transcript": "ENST00000479013.7",
"protein_id": "ENSP00000417990.3",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 393,
"cds_start": 976,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "n.443G>A",
"hgvs_p": null,
"transcript": "ENST00000497816.1",
"protein_id": null,
"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": 1543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"transcript": "NM_001354601.3",
"protein_id": "NP_001341530.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 484,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Asp385Asn",
"transcript": "NM_001354600.3",
"protein_id": "NP_001341529.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 473,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1153G>A",
"hgvs_p": "p.Asp385Asn",
"transcript": "NM_001354599.3",
"protein_id": "NP_001341528.2",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 452,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"transcript": "NM_001354598.3",
"protein_id": "NP_001341527.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 444,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Asp359Asn",
"transcript": "ENST00000651168.1",
"protein_id": "ENSP00000499074.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 426,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1281,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 4665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Asp340Asn",
"transcript": "NM_001354597.3",
"protein_id": "NP_001341526.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 407,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.985G>A",
"hgvs_p": "p.Asp329Asn",
"transcript": "ENST00000650656.1",
"protein_id": "ENSP00000498731.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 396,
"cds_start": 985,
"cds_end": null,
"cds_length": 1191,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Asp326Asn",
"transcript": "NM_001159508.3",
"protein_id": "NP_001152980.2",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 393,
"cds_start": 976,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 4260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.463G>A",
"hgvs_p": "p.Asp155Asn",
"transcript": "ENST00000491554.6",
"protein_id": "ENSP00000453146.1",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 243,
"cds_start": 463,
"cds_end": null,
"cds_length": 732,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 1148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Asp6Asn",
"transcript": "ENST00000466756.2",
"protein_id": "ENSP00000454145.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 57,
"cds_start": 16,
"cds_end": null,
"cds_length": 174,
"cdna_start": 17,
"cdna_end": null,
"cdna_length": 428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.28G>A",
"hgvs_p": "p.Asp10Asn",
"transcript": "ENST00000559575.5",
"protein_id": "ENSP00000453929.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 40,
"cds_start": 28,
"cds_end": null,
"cds_length": 123,
"cdna_start": 29,
"cdna_end": null,
"cdna_length": 295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Asp388Asn",
"transcript": "XM_017022149.2",
"protein_id": "XP_016877638.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 516,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Asp369Asn",
"transcript": "XM_047432460.1",
"protein_id": "XP_047288416.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 497,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Asp340Asn",
"transcript": "XM_047432461.1",
"protein_id": "XP_047288417.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 468,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1478,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Asp388Asn",
"transcript": "XM_017022153.2",
"protein_id": "XP_016877642.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 447,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 1784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Asp369Asn",
"transcript": "XM_017022154.3",
"protein_id": "XP_016877643.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 436,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1565,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1162G>A",
"hgvs_p": "p.Asp388Asn",
"transcript": "XM_017022155.3",
"protein_id": "XP_016877644.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 418,
"cds_start": 1162,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1186,
"cdna_end": null,
"cdna_length": 3387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IVD",
"gene_hgnc_id": 6186,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Asp359Asn",
"transcript": "XM_047432462.1",
"protein_id": "XP_047288418.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 418,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Pathogenic",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": -0.11,
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Pathogenic",
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"acmg_classification": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
"transcript": "ENST00000487418.8",
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],
"clinvar_disease": "IVD-related disorder,Isovaleryl-CoA dehydrogenase deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:4",
"phenotype_combined": "Isovaleryl-CoA dehydrogenase deficiency|not provided|IVD-related disorder|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}