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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: 4-112515147-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=112515147&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 112515147,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024019.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEUROG2",
"gene_hgnc_id": 13805,
"hgvs_c": "c.329A>G",
"hgvs_p": "p.Lys110Arg",
"transcript": "NM_024019.4",
"protein_id": "NP_076924.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 272,
"cds_start": 329,
"cds_end": null,
"cds_length": 819,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": "ENST00000313341.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024019.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEUROG2",
"gene_hgnc_id": 13805,
"hgvs_c": "c.329A>G",
"hgvs_p": "p.Lys110Arg",
"transcript": "ENST00000313341.4",
"protein_id": "ENSP00000317333.3",
"transcript_support_level": 1,
"aa_start": 110,
"aa_end": null,
"aa_length": 272,
"cds_start": 329,
"cds_end": null,
"cds_length": 819,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": "NM_024019.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313341.4"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.162+604T>C",
"hgvs_p": null,
"transcript": "ENST00000754766.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 872,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754766.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.142+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754767.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 703,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754767.1"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.136+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754768.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754768.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.216+604T>C",
"hgvs_p": null,
"transcript": "ENST00000754769.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754769.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.165+604T>C",
"hgvs_p": null,
"transcript": "ENST00000754770.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 976,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754770.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.59+464T>C",
"hgvs_p": null,
"transcript": "ENST00000754771.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754771.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.50+464T>C",
"hgvs_p": null,
"transcript": "ENST00000754772.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754772.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.136+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754773.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 718,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754773.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.129+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754774.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 941,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754774.1"
},
{
"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": 4,
"intron_rank": 1,
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"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.221+604T>C",
"hgvs_p": null,
"transcript": "ENST00000754781.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.197-309T>C",
"hgvs_p": null,
"transcript": "ENST00000754782.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 735,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754782.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.404+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754783.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000754783.1"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.105+464T>C",
"hgvs_p": null,
"transcript": "ENST00000754784.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754784.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.60-309T>C",
"hgvs_p": null,
"transcript": "ENST00000754785.1",
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"mane_select": null,
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"biotype": "pseudogene",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.160+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754786.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754786.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.128+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754787.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754787.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.46+118T>C",
"hgvs_p": null,
"transcript": "ENST00000754788.1",
"protein_id": null,
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"feature": "ENST00000754788.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.253+604T>C",
"hgvs_p": null,
"transcript": "ENST00000754798.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000754798.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "NEUROG2-AS1",
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"hgvs_c": "n.214-309T>C",
"hgvs_p": null,
"transcript": "ENST00000754799.1",
"protein_id": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754799.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.78-309T>C",
"hgvs_p": null,
"transcript": "ENST00000754800.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000754800.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEUROG2-AS1",
"gene_hgnc_id": 40656,
"hgvs_c": "n.398+166T>C",
"hgvs_p": null,
"transcript": "ENST00000754801.1",
"protein_id": null,
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}