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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: 21-14984720-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=14984720&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 14984720,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000318948.7",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-334-16194G>A",
"hgvs_p": null,
"transcript": "NM_003489.4",
"protein_id": "NP_003480.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "ENST00000318948.7",
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-334-16194G>A",
"hgvs_p": null,
"transcript": "ENST00000318948.7",
"protein_id": "ENSP00000327213.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7751,
"mane_select": "NM_003489.4",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-334-16194G>A",
"hgvs_p": null,
"transcript": "ENST00000638122.1",
"protein_id": "ENSP00000490103.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 11,
"cds_start": -4,
"cds_end": null,
"cds_length": 38,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 543,
"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": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-335+3022G>A",
"hgvs_p": null,
"transcript": "NM_001439275.1",
"protein_id": "NP_001426204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-335+6481G>A",
"hgvs_p": null,
"transcript": "NM_001439276.1",
"protein_id": "NP_001426205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7690,
"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": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-335+6481G>A",
"hgvs_p": null,
"transcript": "NM_001439277.1",
"protein_id": "NP_001426206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7813,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-334-16194G>A",
"hgvs_p": null,
"transcript": "NM_001439278.1",
"protein_id": "NP_001426207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
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"cds_length": 3477,
"cdna_start": null,
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"cdna_length": 7584,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-334-16194G>A",
"hgvs_p": null,
"transcript": "NM_001439279.1",
"protein_id": "NP_001426208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7707,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-335+6481G>A",
"hgvs_p": null,
"transcript": "NM_001439280.1",
"protein_id": "NP_001426209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1158,
"cds_start": -4,
"cds_end": null,
"cds_length": 3477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7734,
"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,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-334-16194G>A",
"hgvs_p": null,
"transcript": "NM_001439281.1",
"protein_id": "NP_001426210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "NRIP1",
"gene_hgnc_id": 8001,
"hgvs_c": "c.-335+6481G>A",
"hgvs_p": null,
"transcript": "NM_001439282.1",
"protein_id": "NP_001426211.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "NRIP1",
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"transcript": "NM_001439283.1",
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},
{
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],
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"gene_symbol": "NRIP1",
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"hgvs_c": "c.-334-16194G>A",
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"transcript": "NM_001439284.1",
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},
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],
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"gene_symbol": "NRIP1",
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"hgvs_c": "c.-334-16194G>A",
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},
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],
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"gene_symbol": "NRIP1",
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"transcript": "NM_001439286.1",
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},
{
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],
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"exon_count": 3,
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"gene_symbol": "NRIP1",
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],
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"gene_symbol": "NRIP1",
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"transcript": "ENST00000400199.5",
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},
{
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],
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"gene_symbol": "NRIP1",
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"hgvs_c": "c.-334-16194G>A",
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"transcript": "ENST00000400202.5",
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},
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],
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"gene_symbol": "NRIP1",
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],
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"gene_symbol": "ASMER1",
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"hgvs_c": "n.87+29624G>A",
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},
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],
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"gene_symbol": "ENSG00000231201",
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},
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],
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"gene_symbol": "ASMER1",
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"hgvs_c": "n.107+58775G>A",
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"transcript": "ENST00000715910.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASMER1",
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"hgvs_c": "n.113+29624G>A",
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"transcript": "ENST00000850670.1",
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},
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}