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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: 20-54171669-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=54171669&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 54171669,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000216862.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.25G>A",
"hgvs_p": "p.Glu9Lys",
"transcript": "ENST00000395954.3",
"protein_id": "ENSP00000379284.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 372,
"cds_start": 25,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "NM_000782.5",
"protein_id": "NP_000773.2",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 514,
"cds_start": 451,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": "ENST00000216862.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "ENST00000216862.8",
"protein_id": "ENSP00000216862.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 514,
"cds_start": 451,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": "NM_000782.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "ENST00000395955.7",
"protein_id": "ENSP00000379285.3",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 448,
"cds_start": 451,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "NM_001424340.1",
"protein_id": "NP_001411269.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 514,
"cds_start": 451,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "NM_001424341.1",
"protein_id": "NP_001411270.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 514,
"cds_start": 451,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "NM_001128915.2",
"protein_id": "NP_001122387.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 448,
"cds_start": 451,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "NM_001424342.1",
"protein_id": "NP_001411271.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 448,
"cds_start": 451,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "NM_001424343.1",
"protein_id": "NP_001411272.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 448,
"cds_start": 451,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 3100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "XM_017027692.3",
"protein_id": "XP_016883181.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 514,
"cds_start": 451,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 4892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "XM_047439936.1",
"protein_id": "XP_047295892.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 448,
"cds_start": 451,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP24A1",
"gene_hgnc_id": 2602,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Glu151Lys",
"transcript": "XM_047439938.1",
"protein_id": "XP_047295894.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 448,
"cds_start": 451,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.288+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792273.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 781,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.278+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792274.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.335+6907C>T",
"hgvs_p": null,
"transcript": "ENST00000792275.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.126-6720C>T",
"hgvs_p": null,
"transcript": "ENST00000792276.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.208+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792277.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 466,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.266+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792278.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.124+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792279.1",
"protein_id": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.166+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792280.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.204-1183C>T",
"hgvs_p": null,
"transcript": "ENST00000792281.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.183+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792282.1",
"protein_id": null,
"transcript_support_level": null,
"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": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286587",
"gene_hgnc_id": null,
"hgvs_c": "n.158+3098C>T",
"hgvs_p": null,
"transcript": "ENST00000792283.1",
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}
],
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}