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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: 4-16512785-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=16512785&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 16512785,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000304523.10",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "NM_001290.5",
"protein_id": "NP_001281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": "ENST00000304523.10",
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "ENST00000304523.10",
"protein_id": "ENSP00000306772.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": -4,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": "NM_001290.5",
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "ENST00000441778.6",
"protein_id": "ENSP00000392089.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 331,
"cds_start": -4,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2476,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "ENST00000502640.5",
"protein_id": "ENSP00000423963.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2626,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "NM_001304434.2",
"protein_id": "NP_001291363.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2378,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "ENST00000515064.5",
"protein_id": "ENSP00000422552.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
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"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "NM_001130834.3",
"protein_id": "NP_001124306.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 331,
"cds_start": -4,
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"cds_length": 996,
"cdna_start": null,
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"mane_select": null,
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"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.616-681G>T",
"hgvs_p": null,
"transcript": "NM_001304435.2",
"protein_id": "NP_001291364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2642,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LDB2",
"gene_hgnc_id": 6533,
"hgvs_c": "c.379-681G>T",
"hgvs_p": null,
"transcript": "ENST00000507464.5",
"protein_id": "ENSP00000425754.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": -4,
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"cds_length": 882,
"cdna_start": null,
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"mane_select": 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": 5,
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"gene_symbol": "LDB2",
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"hgvs_c": "n.474-681G>T",
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"transcript": "ENST00000503153.5",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "LDB2",
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"hgvs_c": "n.*403-681G>T",
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"transcript": "ENST00000508918.5",
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},
{
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],
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},
{
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],
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},
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],
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],
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},
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],
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],
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],
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"gene_symbol": "LDB2",
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},
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],
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"gene_symbol": "LDB2",
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}