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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: 7-134452953-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=134452953&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 134452953,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001628.4",
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "NM_001628.4",
"protein_id": "NP_001619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": null,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285930.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001628.4"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000285930.9",
"protein_id": "ENSP00000285930.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"cds_start": null,
"cds_end": null,
"cds_length": 951,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001628.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285930.9"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.107-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000465351.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000465351.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.164-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000467829.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000467829.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "n.164-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000491741.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000491741.5"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000971768.1",
"protein_id": "ENSP00000641827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 325,
"cds_start": null,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971768.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000916187.1",
"protein_id": "ENSP00000586246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 321,
"cds_start": null,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916187.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000916181.1",
"protein_id": "ENSP00000586240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916181.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000971767.1",
"protein_id": "ENSP00000641826.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971767.1"
},
{
"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": 10,
"intron_rank": 1,
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"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000896051.1",
"protein_id": "ENSP00000566110.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896051.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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"gene_symbol": "AKR1B1",
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"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000916185.1",
"protein_id": "ENSP00000586244.1",
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"cds_start": null,
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"cdna_start": null,
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"feature": "ENST00000916185.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "AKR1B1",
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"hgvs_c": "c.67-1200G>A",
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"transcript": "ENST00000896049.1",
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"feature": "ENST00000896049.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "AKR1B1",
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"hgvs_c": "c.67-1200G>A",
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},
{
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],
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"gene_symbol": "AKR1B1",
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},
{
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],
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"gene_symbol": "AKR1B1",
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"hgvs_c": "c.67-1200G>A",
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"transcript": "ENST00000896053.1",
"protein_id": "ENSP00000566112.1",
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},
{
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],
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"gene_symbol": "AKR1B1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "AKR1B1",
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"hgvs_c": "c.67-1200G>A",
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"transcript": "ENST00000896052.1",
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},
{
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],
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-1200G>A",
"hgvs_p": null,
"transcript": "ENST00000896050.1",
"protein_id": "ENSP00000566109.1",
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},
{
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],
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"exon_count": 9,
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"hgvs_c": "c.67-1200G>A",
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"transcript": "ENST00000971769.1",
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},
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],
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"hgvs_c": "c.67-1200G>A",
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},
{
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"consequences": [
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],
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"hgvs_c": "c.67-1200G>A",
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"biotype": "protein_coding",
"feature": "ENST00000916186.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AKR1B1",
"gene_hgnc_id": 381,
"hgvs_c": "c.67-3834G>A",
"hgvs_p": null,
"transcript": "ENST00000916183.1",
"protein_id": "ENSP00000586242.1",
"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,
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"biotype": "protein_coding",
"feature": "ENST00000916183.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 1,
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}