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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: 16-4730261-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=4730261&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 4730261,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000304283.9",
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-2-110C>G",
"hgvs_p": null,
"transcript": "NM_133450.4",
"protein_id": "NP_597707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": "ENST00000304283.9",
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000304283.9",
"protein_id": "ENSP00000304586.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": -4,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2772,
"mane_select": "NM_133450.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000592077.5",
"protein_id": "ENSP00000465203.1",
"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": 2302,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-49-3084C>G",
"hgvs_p": null,
"transcript": "ENST00000585773.5",
"protein_id": "ENSP00000465294.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": -4,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1946,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-2-110C>G",
"hgvs_p": null,
"transcript": "NM_001242929.2",
"protein_id": "NP_001229858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000450067.6",
"protein_id": "ENSP00000388270.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2272,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-190-110C>G",
"hgvs_p": null,
"transcript": "NM_001308089.2",
"protein_id": "NP_001295018.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 527,
"cds_start": -4,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2355,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-29+3895C>G",
"hgvs_p": null,
"transcript": "NM_001324129.2",
"protein_id": "NP_001311058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 483,
"cds_start": -4,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1993,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-941-110C>G",
"hgvs_p": null,
"transcript": "NM_001324130.2",
"protein_id": "NP_001311059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 366,
"cds_start": -4,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2773,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000592421.5",
"protein_id": "ENSP00000466228.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-29+3895C>G",
"hgvs_p": null,
"transcript": "ENST00000586605.5",
"protein_id": "ENSP00000468234.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 254,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 968,
"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": 6,
"intron_rank": 1,
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"gene_symbol": "ANKS3",
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"hgvs_c": "c.-46+3895C>G",
"hgvs_p": null,
"transcript": "ENST00000586166.5",
"protein_id": "ENSP00000465373.1",
"transcript_support_level": 3,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "c.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000590147.5",
"protein_id": "ENSP00000468380.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 165,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "ANKS3",
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"hgvs_c": "c.-2-110C>G",
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"transcript": "ENST00000592190.1",
"protein_id": "ENSP00000465566.1",
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},
{
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],
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"gene_symbol": "ANKS3",
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"hgvs_c": "c.-2-110C>G",
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"transcript": "ENST00000589065.5",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "ANKS3",
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"hgvs_c": "c.-2-110C>G",
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"transcript": "ENST00000592711.5",
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},
{
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],
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"gene_symbol": "ANKS3",
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"hgvs_c": "c.-694-110C>G",
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"transcript": "ENST00000592698.5",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "ANKS3",
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"hgvs_c": "n.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000586159.5",
"protein_id": "ENSP00000465454.1",
"transcript_support_level": 3,
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
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"hgvs_c": "n.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000587005.5",
"protein_id": "ENSP00000465361.1",
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},
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],
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"gene_symbol": "ENSG00000266994",
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},
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ANKS3",
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"hgvs_c": "n.-2-110C>G",
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"transcript": "ENST00000590193.5",
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},
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "ANKS3",
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"hgvs_c": "n.41-110C>G",
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"transcript": "ENST00000590689.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANKS3",
"gene_hgnc_id": 29422,
"hgvs_c": "n.-2-110C>G",
"hgvs_p": null,
"transcript": "ENST00000590730.5",
"protein_id": "ENSP00000466162.1",
"transcript_support_level": 2,
"aa_start": null,
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"biotype": null,
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},
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"protein_coding": false,
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}