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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: 18-676789-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=676789&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 676789,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000647584.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1148+556T>A",
"hgvs_p": null,
"transcript": "NM_017512.7",
"protein_id": "NP_059982.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": "ENST00000647584.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1148+556T>A",
"hgvs_p": null,
"transcript": "ENST00000647584.2",
"protein_id": "ENSP00000497230.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5362,
"mane_select": "NM_017512.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.902+556T>A",
"hgvs_p": null,
"transcript": "ENST00000383578.7",
"protein_id": "ENSP00000373072.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*535+556T>A",
"hgvs_p": null,
"transcript": "ENST00000581475.5",
"protein_id": "ENSP00000464614.1",
"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": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1292+556T>A",
"hgvs_p": null,
"transcript": "NM_001354067.2",
"protein_id": "NP_001340996.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": -4,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1250+556T>A",
"hgvs_p": null,
"transcript": "NM_202758.5",
"protein_id": "NP_974487.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1250+556T>A",
"hgvs_p": null,
"transcript": "ENST00000340116.12",
"protein_id": "ENSP00000345974.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 477,
"cds_start": -4,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1163+556T>A",
"hgvs_p": null,
"transcript": "NM_001439136.1",
"protein_id": "NP_001426065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 448,
"cds_start": -4,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1106+556T>A",
"hgvs_p": null,
"transcript": "NM_001354066.2",
"protein_id": "NP_001340995.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": -4,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1061+556T>A",
"hgvs_p": null,
"transcript": "NM_001354068.2",
"protein_id": "NP_001340997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.920+556T>A",
"hgvs_p": null,
"transcript": "NM_001439137.1",
"protein_id": "NP_001426066.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.920+556T>A",
"hgvs_p": null,
"transcript": "ENST00000580982.5",
"protein_id": "ENSP00000463425.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 367,
"cds_start": -4,
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"cds_length": 1104,
"cdna_start": null,
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"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.902+556T>A",
"hgvs_p": null,
"transcript": "NM_001354065.2",
"protein_id": "NP_001340994.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 361,
"cds_start": -4,
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"cds_length": 1086,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.605+556T>A",
"hgvs_p": null,
"transcript": "NM_001318760.2",
"protein_id": "NP_001305689.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.136-1387T>A",
"hgvs_p": null,
"transcript": "ENST00000581928.5",
"protein_id": null,
"transcript_support_level": 2,
"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
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.646+556T>A",
"hgvs_p": null,
"transcript": "ENST00000582745.5",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.1729+556T>A",
"hgvs_p": null,
"transcript": "ENST00000583973.5",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.3259+556T>A",
"hgvs_p": null,
"transcript": "ENST00000584259.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_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": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*535+556T>A",
"hgvs_p": null,
"transcript": "ENST00000584453.5",
"protein_id": "ENSP00000463448.1",
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.264+556T>A",
"hgvs_p": null,
"transcript": "ENST00000584646.5",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*678+556T>A",
"hgvs_p": null,
"transcript": "ENST00000585128.6",
"protein_id": "ENSP00000462925.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.1075+556T>A",
"hgvs_p": null,
"transcript": "NR_148706.2",
"protein_id": 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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.1191+556T>A",
"hgvs_p": null,
"transcript": "NR_148707.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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"feature": null
},
{
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}