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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: 12-110634661-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110634661&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110634661,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000397659.9",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.713-9G>T",
"hgvs_p": null,
"transcript": "NM_001082538.3",
"protein_id": "NP_001076007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "ENST00000397659.9",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.713-9G>T",
"hgvs_p": null,
"transcript": "ENST00000397659.9",
"protein_id": "ENSP00000380779.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "NM_001082538.3",
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.713-9G>T",
"hgvs_p": null,
"transcript": "ENST00000551590.5",
"protein_id": "ENSP00000448735.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.780+198G>T",
"hgvs_p": null,
"transcript": "ENST00000397655.7",
"protein_id": "ENSP00000380775.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 573,
"cds_start": -4,
"cds_end": null,
"cds_length": 1722,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*346-9G>T",
"hgvs_p": null,
"transcript": "ENST00000397656.8",
"protein_id": "ENSP00000380776.4",
"transcript_support_level": 2,
"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": 2098,
"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": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*766-9G>T",
"hgvs_p": null,
"transcript": "ENST00000464809.5",
"protein_id": "ENSP00000435027.1",
"transcript_support_level": 1,
"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": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.781-9G>T",
"hgvs_p": null,
"transcript": "ENST00000480648.5",
"protein_id": "ENSP00000437196.1",
"transcript_support_level": 5,
"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": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*471-9G>T",
"hgvs_p": null,
"transcript": "ENST00000495659.6",
"protein_id": "ENSP00000436673.2",
"transcript_support_level": 2,
"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": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.351G>T",
"hgvs_p": null,
"transcript": "ENST00000680168.1",
"protein_id": null,
"transcript_support_level": null,
"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": 529,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.713-9G>T",
"hgvs_p": null,
"transcript": "NM_001082537.3",
"protein_id": "NP_001076006.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": -4,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2207,
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.780+198G>T",
"hgvs_p": null,
"transcript": "NM_024549.6",
"protein_id": "NP_078825.2",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 573,
"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 5,
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"gene_symbol": "TCTN1",
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"hgvs_c": "c.713-9G>T",
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"transcript": "NM_001319680.2",
"protein_id": "NP_001306609.1",
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},
{
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"strand": true,
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"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 5,
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"gene_symbol": "TCTN1",
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"hgvs_c": "c.713-9G>T",
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"transcript": "ENST00000614115.5",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
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"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.545-9G>T",
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"transcript": "NM_001173975.3",
"protein_id": "NP_001167446.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "TCTN1",
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"hgvs_c": "c.713-9G>T",
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"transcript": "ENST00000377654.5",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
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"hgvs_c": "c.533-9G>T",
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},
{
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],
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"gene_symbol": "TCTN1",
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"hgvs_c": "c.713-9G>T",
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"transcript": "ENST00000549123.6",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
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"hgvs_c": "c.179-9G>T",
"hgvs_p": null,
"transcript": "NM_001319681.2",
"protein_id": "NP_001306610.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 5,
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"gene_symbol": "TCTN1",
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"hgvs_c": "c.713-9G>T",
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"transcript": "ENST00000471804.7",
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},
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],
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"intron_rank": 5,
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"gene_symbol": "TCTN1",
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},
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "HVCN1",
"gene_hgnc_id": 28240,
"hgvs_c": "c.757-6485C>A",
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"transcript": "ENST00000548312.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*537-9G>T",
"hgvs_p": null,
"transcript": "ENST00000490514.5",
"protein_id": "ENSP00000436044.1",
"transcript_support_level": 2,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.713-1820G>T",
"hgvs_p": null,
"transcript": "ENST00000547461.3",
"protein_id": "ENSP00000448188.3",
"transcript_support_level": 3,
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},
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}