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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: 4-858525-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=858525&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 858525,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000314167.9",
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3283+1081G>A",
"hgvs_p": null,
"transcript": "NM_005255.4",
"protein_id": "NP_005246.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": "ENST00000314167.9",
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3283+1081G>A",
"hgvs_p": null,
"transcript": "ENST00000314167.9",
"protein_id": "ENSP00000314499.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1311,
"cds_start": -4,
"cds_end": null,
"cds_length": 3936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": "NM_005255.4",
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3046+1081G>A",
"hgvs_p": null,
"transcript": "ENST00000511163.5",
"protein_id": "ENSP00000421361.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1232,
"cds_start": -4,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4280,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.640+1081G>A",
"hgvs_p": null,
"transcript": "ENST00000510799.1",
"protein_id": "ENSP00000426062.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": -4,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"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": 25,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3046+1081G>A",
"hgvs_p": null,
"transcript": "NM_001318134.2",
"protein_id": "NP_001305063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1232,
"cds_start": -4,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4224,
"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": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.748+837G>A",
"hgvs_p": null,
"transcript": "ENST00000511980.5",
"protein_id": "ENSP00000421049.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": -4,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1768,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "n.1737+1081G>A",
"hgvs_p": null,
"transcript": "ENST00000509566.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3126,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "n.2191-6551G>A",
"hgvs_p": null,
"transcript": "ENST00000515868.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 3903,
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3415+837G>A",
"hgvs_p": null,
"transcript": "XM_011513425.3",
"protein_id": "XP_011511727.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1355,
"cds_start": -4,
"cds_end": null,
"cds_length": 4068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4593,
"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": 29,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3382+837G>A",
"hgvs_p": null,
"transcript": "XM_011513426.3",
"protein_id": "XP_011511728.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": -4,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
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"cdna_length": 4560,
"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": 28,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3325+837G>A",
"hgvs_p": null,
"transcript": "XM_011513427.3",
"protein_id": "XP_011511729.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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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": 28,
"intron_rank": 24,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3268+837G>A",
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"transcript": "XM_011513428.3",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 28,
"intron_rank": 24,
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"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3250+1081G>A",
"hgvs_p": null,
"transcript": "XM_005272268.3",
"protein_id": "XP_005272325.1",
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"aa_start": null,
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},
{
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],
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"exon_count": 27,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3229+837G>A",
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"transcript": "XM_011513429.3",
"protein_id": "XP_011511731.1",
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},
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],
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 22,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3178+837G>A",
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"transcript": "XM_011513430.2",
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},
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],
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"gene_symbol": "GAK",
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"hgvs_c": "c.3167-6551G>A",
"hgvs_p": null,
"transcript": "XM_011513431.3",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 23,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3160+1081G>A",
"hgvs_p": null,
"transcript": "XM_047450002.1",
"protein_id": "XP_047305958.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 29,
"intron_rank": 25,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3151+837G>A",
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"transcript": "XM_011513432.3",
"protein_id": "XP_011511734.1",
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},
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],
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"gene_symbol": "GAK",
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},
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],
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"gene_symbol": "GAK",
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},
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],
"exon_rank": null,
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"intron_rank": 23,
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"gene_symbol": "GAK",
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"hgvs_c": "c.3136+1081G>A",
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"transcript": "XM_047450005.1",
"protein_id": "XP_047305961.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "GAK",
"gene_hgnc_id": 4113,
"hgvs_c": "c.3134-6551G>A",
"hgvs_p": null,
"transcript": "XM_047450006.1",
"protein_id": "XP_047305962.1",
"transcript_support_level": null,
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}