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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: 18-5525038-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=5525038&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 5525038,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000341928.7",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_012307.5",
"protein_id": "NP_036439.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": "ENST00000341928.7",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "ENST00000341928.7",
"protein_id": "ENSP00000343158.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1087,
"cds_start": -4,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": "NM_012307.5",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "ENST00000540638.6",
"protein_id": "ENSP00000442091.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": -4,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3370,
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384685.1",
"protein_id": "NP_001371614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1105,
"cds_start": -4,
"cds_end": null,
"cds_length": 3318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4513,
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "ENST00000400111.8",
"protein_id": "ENSP00000382981.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1046,
"cds_start": -4,
"cds_end": null,
"cds_length": 3141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4259,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001330557.2",
"protein_id": "NP_001317486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3952,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "ENST00000342933.7",
"protein_id": "ENSP00000341138.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4270,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384686.1",
"protein_id": "NP_001371615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384687.1",
"protein_id": "NP_001371616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 900,
"cds_start": -4,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3898,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384689.1",
"protein_id": "NP_001371618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 891,
"cds_start": -4,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3871,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+15302G>A",
"hgvs_p": null,
"transcript": "NM_001281533.2",
"protein_id": "NP_001268462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"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": 21,
"intron_rank": 1,
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"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384682.1",
"protein_id": "NP_001371611.1",
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"aa_start": null,
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"aa_length": 883,
"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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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+15302G>A",
"hgvs_p": null,
"transcript": "ENST00000544123.5",
"protein_id": "ENSP00000441174.1",
"transcript_support_level": 2,
"aa_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": 21,
"intron_rank": 1,
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"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384691.1",
"protein_id": "NP_001371620.1",
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},
{
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"strand": false,
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],
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"exon_count": 21,
"intron_rank": 1,
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"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384692.1",
"protein_id": "NP_001371621.1",
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"aa_start": null,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384693.1",
"protein_id": "NP_001371622.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "EPB41L3",
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"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001281534.3",
"protein_id": "NP_001268463.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384694.1",
"protein_id": "NP_001371623.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 1,
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"gene_symbol": "EPB41L3",
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"hgvs_c": "c.-12+18875G>A",
"hgvs_p": null,
"transcript": "NM_001384695.1",
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},
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],
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"gene_symbol": "EPB41L3",
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"hgvs_c": "c.-12+18875G>A",
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"transcript": "NM_001384696.1",
"protein_id": "NP_001371625.1",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "EPB41L3",
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"transcript": "NM_001384697.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-305-35877G>A",
"hgvs_p": null,
"transcript": "NM_001384698.1",
"protein_id": "NP_001371627.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPB41L3",
"gene_hgnc_id": 3380,
"hgvs_c": "c.-305-35877G>A",
"hgvs_p": null,
"transcript": "NM_001384699.1",
"protein_id": "NP_001371628.1",
"transcript_support_level": null,
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}