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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: 12-122941028-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122941028&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122941028,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000280560.13",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "NM_019625.4",
"protein_id": "NP_062571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": "ENST00000280560.13",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "ENST00000280560.13",
"protein_id": "ENSP00000280560.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3484,
"mane_select": "NM_019625.4",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "ENST00000542678.5",
"protein_id": "ENSP00000440288.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6051,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "ENST00000442833.6",
"protein_id": "ENSP00000456375.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": -4,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2587,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "ENST00000344275.11",
"protein_id": "ENSP00000456813.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 681,
"cds_start": -4,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2394,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "n.1406-33G>A",
"hgvs_p": null,
"transcript": "ENST00000538895.5",
"protein_id": null,
"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": 2430,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "NM_001437843.1",
"protein_id": "NP_001424772.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3707,
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "ENST00000392439.7",
"protein_id": "ENSP00000376234.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 766,
"cds_start": -4,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3791,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1252-33G>A",
"hgvs_p": null,
"transcript": "NM_001438398.1",
"protein_id": "NP_001425327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1252-33G>A",
"hgvs_p": null,
"transcript": "NM_019624.4",
"protein_id": "NP_062570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
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"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1252-33G>A",
"hgvs_p": null,
"transcript": "ENST00000346530.9",
"protein_id": "ENSP00000280559.7",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "ABCB9",
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"hgvs_c": "c.1381-744G>A",
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"transcript": "NM_001243013.2",
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},
{
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],
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"intron_rank": 7,
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"gene_symbol": "ABCB9",
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"hgvs_c": "c.1381-744G>A",
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"transcript": "ENST00000540285.5",
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},
{
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],
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"gene_symbol": "ABCB9",
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"hgvs_c": "c.1381-33G>A",
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"transcript": "NM_203444.4",
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},
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],
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},
{
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],
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"gene_symbol": "ABCB9",
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"hgvs_c": "c.202-744G>A",
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"transcript": "ENST00000546289.5",
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},
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],
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"gene_symbol": "ABCB9",
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"transcript": "ENST00000542448.5",
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},
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"consequences": [
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],
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"gene_symbol": "ABCB9",
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"hgvs_c": "c.499-33G>A",
"hgvs_p": null,
"transcript": "ENST00000540971.5",
"protein_id": "ENSP00000441086.1",
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},
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],
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "ABCB9",
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"hgvs_c": "c.202-33G>A",
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},
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],
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],
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},
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"consequences": [
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],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
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"hgvs_c": "n.199-33G>A",
"hgvs_p": null,
"transcript": "ENST00000541983.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ABCB9",
"gene_hgnc_id": 50,
"hgvs_c": "c.1381-33G>A",
"hgvs_p": null,
"transcript": "XM_011538096.3",
"protein_id": "XP_011536398.1",
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},
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