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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: 12-78189318-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=78189318&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 78189318,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000397909.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.6055+541A>G",
"hgvs_p": null,
"transcript": "NM_001024383.2",
"protein_id": "NP_001019554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2385,
"cds_start": -4,
"cds_end": null,
"cds_length": 7158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10219,
"mane_select": "ENST00000397909.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.6055+541A>G",
"hgvs_p": null,
"transcript": "ENST00000397909.7",
"protein_id": "ENSP00000381007.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2385,
"cds_start": -4,
"cds_end": null,
"cds_length": 7158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10219,
"mane_select": "NM_001024383.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.5989+541A>G",
"hgvs_p": null,
"transcript": "ENST00000536525.6",
"protein_id": "ENSP00000446132.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2363,
"cds_start": -4,
"cds_end": null,
"cds_length": 7092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.2671+541A>G",
"hgvs_p": null,
"transcript": "ENST00000552895.5",
"protein_id": "ENSP00000446644.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1257,
"cds_start": -4,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.5989+541A>G",
"hgvs_p": null,
"transcript": "NM_014903.6",
"protein_id": "NP_055718.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2363,
"cds_start": -4,
"cds_end": null,
"cds_length": 7092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.4426+541A>G",
"hgvs_p": null,
"transcript": "NM_001438019.1",
"protein_id": "NP_001424948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1842,
"cds_start": -4,
"cds_end": null,
"cds_length": 5529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.4426+541A>G",
"hgvs_p": null,
"transcript": "ENST00000644176.1",
"protein_id": "ENSP00000495503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1842,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.1855+541A>G",
"hgvs_p": null,
"transcript": "ENST00000550788.1",
"protein_id": "ENSP00000448303.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "n.364-666A>G",
"hgvs_p": null,
"transcript": "ENST00000552300.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.6034+541A>G",
"hgvs_p": null,
"transcript": "XM_017020164.3",
"protein_id": "XP_016875653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2378,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.5992+541A>G",
"hgvs_p": null,
"transcript": "XM_017020165.2",
"protein_id": "XP_016875654.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "NAV3",
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"transcript": "XM_005269215.5",
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},
{
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],
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"gene_symbol": "NAV3",
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"transcript": "XM_047429812.1",
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},
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],
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"gene_symbol": "NAV3",
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"hgvs_c": "c.5947+541A>G",
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],
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},
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],
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"gene_symbol": "NAV3",
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],
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"gene_symbol": "NAV3",
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"hgvs_c": "c.5884+541A>G",
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"transcript": "XM_017020166.3",
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],
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"gene_symbol": "NAV3",
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"consequences": [
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],
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"intron_rank": 31,
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"gene_symbol": "NAV3",
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"hgvs_c": "c.5797+541A>G",
"hgvs_p": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 31,
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"gene_symbol": "NAV3",
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"hgvs_c": "c.5773+541A>G",
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"transcript": "XM_047429818.1",
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