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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: 12-105235461-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=105235461&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 105235461,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001251904.2",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "NM_018171.5",
"protein_id": "NP_060641.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258530.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018171.5"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000258530.8",
"protein_id": "ENSP00000258530.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018171.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258530.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "n.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000547439.5",
"protein_id": "ENSP00000449410.1",
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547439.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.-5819T>A",
"hgvs_p": null,
"transcript": "XM_017019551.3",
"protein_id": "XP_016875040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019551.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.-5819T>A",
"hgvs_p": null,
"transcript": "XM_017019551.3",
"protein_id": "XP_016875040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": null,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019551.3"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862273.1",
"protein_id": "ENSP00000532332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 737,
"cds_start": null,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862273.1"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967975.1",
"protein_id": "ENSP00000638034.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 697,
"cds_start": null,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967975.1"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967976.1",
"protein_id": "ENSP00000638035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 690,
"cds_start": null,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967976.1"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "NM_001251904.2",
"protein_id": "NP_001238833.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": null,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001251904.2"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000551662.5",
"protein_id": "ENSP00000446917.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 670,
"cds_start": null,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551662.5"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967974.1",
"protein_id": "ENSP00000638033.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967974.1"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967978.1",
"protein_id": "ENSP00000638037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 669,
"cds_start": null,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967978.1"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862269.1",
"protein_id": "ENSP00000532328.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 663,
"cds_start": null,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862269.1"
},
{
"aa_ref": null,
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862267.1",
"protein_id": "ENSP00000532326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 1980,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862267.1"
},
{
"aa_ref": null,
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000919694.1",
"protein_id": "ENSP00000589753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 649,
"cds_start": null,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919694.1"
},
{
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967980.1",
"protein_id": "ENSP00000638039.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967980.1"
},
{
"aa_ref": null,
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862282.1",
"protein_id": "ENSP00000532341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": null,
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"cds_length": 1929,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862282.1"
},
{
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862280.1",
"protein_id": "ENSP00000532339.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": null,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862280.1"
},
{
"aa_ref": null,
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967982.1",
"protein_id": "ENSP00000638041.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967982.1"
},
{
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862266.1",
"protein_id": "ENSP00000532325.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862266.1"
},
{
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"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000862275.1",
"protein_id": "ENSP00000532334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
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"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862275.1"
},
{
"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": "APPL2",
"gene_hgnc_id": 18242,
"hgvs_c": "c.54+498T>A",
"hgvs_p": null,
"transcript": "ENST00000967979.1",
"protein_id": "ENSP00000638038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": null,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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