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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: 5-55668755-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55668755&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55668755,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000396865.7",
"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": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "NM_173514.4",
"protein_id": "NP_775785.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "ENST00000396865.7",
"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": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "ENST00000396865.7",
"protein_id": "ENSP00000380074.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": "NM_173514.4",
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "NM_001349382.1",
"protein_id": "NP_001336311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2805,
"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": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "NM_001349383.1",
"protein_id": "NP_001336312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2802,
"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": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "NM_001349384.1",
"protein_id": "NP_001336313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2649,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "ENST00000318672.7",
"protein_id": "ENSP00000316596.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": -4,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2369,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.337+473G>A",
"hgvs_p": null,
"transcript": "NM_001258286.1",
"protein_id": "NP_001245215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2686,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.445+473G>A",
"hgvs_p": null,
"transcript": "NM_001258287.1",
"protein_id": "NP_001245216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2682,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.445+473G>A",
"hgvs_p": null,
"transcript": "ENST00000512595.5",
"protein_id": "ENSP00000427335.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": -4,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1756,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.337+473G>A",
"hgvs_p": null,
"transcript": "ENST00000515629.5",
"protein_id": "ENSP00000420934.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "NM_001349385.1",
"protein_id": "NP_001336314.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SLC38A9",
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"transcript": "ENST00000511233.5",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
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"gene_symbol": "SLC38A9",
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"hgvs_c": "c.154+473G>A",
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"transcript": "NM_001282429.1",
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},
{
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],
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"gene_symbol": "SLC38A9",
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"hgvs_c": "c.154+473G>A",
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"transcript": "ENST00000416547.6",
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},
{
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],
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"transcript": "ENST00000512208.5",
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},
{
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],
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"gene_symbol": "SLC38A9",
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"hgvs_c": "n.337+473G>A",
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"transcript": "ENST00000505708.5",
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},
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],
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"gene_symbol": "SLC38A9",
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"hgvs_c": "n.203+473G>A",
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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": 6,
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"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "n.*261+473G>A",
"hgvs_p": null,
"transcript": "ENST00000508124.5",
"protein_id": "ENSP00000426925.1",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SLC38A9",
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},
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],
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},
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],
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"gene_symbol": "SLC38A9",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
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"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
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"transcript": "XM_011543174.2",
"protein_id": "XP_011541476.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SLC38A9",
"gene_hgnc_id": 26907,
"hgvs_c": "c.526+473G>A",
"hgvs_p": null,
"transcript": "XM_047416778.1",
"protein_id": "XP_047272734.1",
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}