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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: 12-76067266-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=76067266&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 76067266,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000618691.5",
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "NM_004537.7",
"protein_id": "NP_004528.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13159,
"mane_select": "ENST00000618691.5",
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000618691.5",
"protein_id": "ENSP00000477538.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13159,
"mane_select": "NM_004537.7",
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000393263.7",
"protein_id": "ENSP00000376947.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1896,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "NM_001330231.2",
"protein_id": "NP_001317160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4297,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "NM_139207.5",
"protein_id": "NP_631946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": -4,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4325,
"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": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.188+105T>C",
"hgvs_p": null,
"transcript": "ENST00000552056.5",
"protein_id": "ENSP00000450236.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1981,
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "NM_001307924.3",
"protein_id": "NP_001294853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2165,
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000535020.6",
"protein_id": "ENSP00000445008.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 383,
"cds_start": -4,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1686,
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000552342.5",
"protein_id": "ENSP00000447196.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 379,
"cds_start": -4,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1526,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000549596.5",
"protein_id": "ENSP00000447793.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
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"cdna_length": 1838,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.83+105T>C",
"hgvs_p": null,
"transcript": "ENST00000542344.5",
"protein_id": "ENSP00000444759.1",
"transcript_support_level": 2,
"aa_start": 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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"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": 14,
"intron_rank": 2,
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"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.17+6937T>C",
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"transcript": "NM_001330232.2",
"protein_id": "NP_001317161.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.17+6937T>C",
"hgvs_p": null,
"transcript": "NM_001439290.1",
"protein_id": "NP_001426219.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 2,
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"gene_symbol": "NAP1L1",
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"hgvs_c": "c.17+6937T>C",
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"transcript": "ENST00000547773.5",
"protein_id": "ENSP00000448167.1",
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},
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],
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.83+105T>C",
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"transcript": "ENST00000431879.7",
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},
{
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],
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"gene_symbol": "NAP1L1",
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"hgvs_c": "c.206+105T>C",
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"transcript": "ENST00000551992.5",
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},
{
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"consequences": [
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],
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"exon_count": 9,
"intron_rank": 4,
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"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000550934.5",
"protein_id": "ENSP00000448133.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "NAP1L1",
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"hgvs_c": "c.206+105T>C",
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"transcript": "ENST00000551600.5",
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},
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],
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},
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],
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"gene_symbol": "NAP1L1",
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},
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"consequences": [
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],
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"intron_rank": 4,
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"gene_symbol": "NAP1L1",
"gene_hgnc_id": 7637,
"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000547704.5",
"protein_id": "ENSP00000446756.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NAP1L1",
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"hgvs_c": "c.206+105T>C",
"hgvs_p": null,
"transcript": "ENST00000547479.5",
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}