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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: 4-2848415-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2848415&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2848415,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000683351.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "NM_001354761.2",
"protein_id": "NP_001341690.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": "ENST00000683351.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "ENST00000683351.1",
"protein_id": "ENSP00000508142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": "NM_001354761.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-179+3581G>A",
"hgvs_p": null,
"transcript": "ENST00000355842.7",
"protein_id": "ENSP00000348100.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "NM_001354756.2",
"protein_id": "NP_001341685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "NM_014189.4",
"protein_id": "NP_054908.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "ENST00000264758.11",
"protein_id": "ENSP00000264758.6",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 768,
"cds_start": -4,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "NM_001119.5",
"protein_id": "NP_001110.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
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"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-36+4391G>A",
"hgvs_p": null,
"transcript": "NM_001354754.2",
"protein_id": "NP_001341683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4001G>A",
"hgvs_p": null,
"transcript": "NM_001354755.2",
"protein_id": "NP_001341684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": -4,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "NM_001354762.2",
"protein_id": "NP_001341691.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 693,
"cds_start": -4,
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"cds_length": 2082,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-21+4391G>A",
"hgvs_p": null,
"transcript": "ENST00000503455.6",
"protein_id": "ENSP00000423024.2",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "ADD1",
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"hgvs_c": "c.-179+3581G>A",
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"transcript": "NM_001286645.2",
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},
{
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],
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"gene_symbol": "ADD1",
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"hgvs_c": "c.-21+4391G>A",
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"transcript": "NM_001354759.2",
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},
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],
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"gene_symbol": "ADD1",
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"hgvs_c": "c.-21+4391G>A",
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"transcript": "NM_176801.3",
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],
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},
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],
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"gene_symbol": "ADD1",
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"hgvs_c": "c.-21+4391G>A",
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},
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],
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},
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],
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"gene_symbol": "ADD1",
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"hgvs_c": "c.-21+4001G>A",
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"transcript": "NM_001354758.2",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "ADD1",
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"transcript": "NM_014190.4",
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],
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],
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"gene_symbol": "ADD1",
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"transcript": "ENST00000511797.5",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "n.168+4391G>A",
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},
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}