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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: 14-61020330-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=61020330&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 61020330,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000267488.9",
"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": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.403+750T>C",
"hgvs_p": null,
"transcript": "NM_153811.3",
"protein_id": "NP_722518.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": "ENST00000267488.9",
"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": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.403+750T>C",
"hgvs_p": null,
"transcript": "ENST00000267488.9",
"protein_id": "ENSP00000267488.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"mane_select": "NM_153811.3",
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.403+750T>C",
"hgvs_p": null,
"transcript": "ENST00000354886.6",
"protein_id": "ENSP00000346959.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1730,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.388+750T>C",
"hgvs_p": null,
"transcript": "ENST00000451406.5",
"protein_id": "ENSP00000395851.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 516,
"cds_start": -4,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1568,
"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": 21,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*182+750T>C",
"hgvs_p": null,
"transcript": "ENST00000491344.7",
"protein_id": "ENSP00000431212.2",
"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": 2501,
"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": 18,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*592+750T>C",
"hgvs_p": null,
"transcript": "ENST00000527591.5",
"protein_id": "ENSP00000434737.1",
"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": 1689,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.403+750T>C",
"hgvs_p": null,
"transcript": "NM_001172702.2",
"protein_id": "NP_001166173.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1620,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.155-10115T>C",
"hgvs_p": null,
"transcript": "ENST00000533744.6",
"protein_id": "ENSP00000434543.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.241+750T>C",
"hgvs_p": null,
"transcript": "ENST00000526105.5",
"protein_id": "ENSP00000451244.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 125,
"cds_start": -4,
"cds_end": null,
"cds_length": 380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.43+750T>C",
"hgvs_p": null,
"transcript": "ENST00000534758.1",
"protein_id": "ENSP00000482800.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": -4,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
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"cdna_length": 640,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "n.*182+750T>C",
"hgvs_p": null,
"transcript": "ENST00000524402.6",
"protein_id": "ENSP00000451434.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "SLC38A6",
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"transcript": "ENST00000525723.6",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "SLC38A6",
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"hgvs_c": "n.*182+750T>C",
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"transcript": "ENST00000528350.5",
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},
{
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"strand": true,
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],
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"intron_rank": 5,
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"gene_symbol": "SLC38A6",
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"hgvs_c": "n.*490+750T>C",
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},
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],
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "SLC38A6",
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"hgvs_c": "n.403+750T>C",
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},
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],
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"gene_symbol": "SLC38A6",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "SLC38A6",
"gene_hgnc_id": 19863,
"hgvs_c": "c.403+750T>C",
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"transcript": "XM_017021020.2",
"protein_id": "XP_016876509.1",
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],
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"intron_rank": 5,
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"gene_symbol": "SLC38A6",
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],
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},
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],
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"gene_symbol": "SLC38A6",
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"hgvs_c": "c.403+750T>C",
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"transcript": "XM_047431003.1",
"protein_id": "XP_047286959.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "SLC38A6",
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"hgvs_c": "c.403+750T>C",
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}