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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: 2-73975451-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73975451&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73975451,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000439192.4",
"consequences": [
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.649+5658A>G",
"hgvs_p": null,
"transcript": "ENST00000413452.4",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000413452.4"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.620+5684A>G",
"hgvs_p": null,
"transcript": "ENST00000439192.4",
"protein_id": null,
"transcript_support_level": 2,
"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": "pseudogene",
"feature": "ENST00000439192.4"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.307+5684A>G",
"hgvs_p": null,
"transcript": "ENST00000453103.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000453103.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.505+5684A>G",
"hgvs_p": null,
"transcript": "ENST00000667561.4",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000667561.4"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.475+5658A>G",
"hgvs_p": null,
"transcript": "ENST00000685756.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000685756.3"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.173+6580A>G",
"hgvs_p": null,
"transcript": "ENST00000689317.3",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000689317.3"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.379+3729A>G",
"hgvs_p": null,
"transcript": "ENST00000701457.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000701457.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.499+5658A>G",
"hgvs_p": null,
"transcript": "ENST00000701478.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000701478.2"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.316+5684A>G",
"hgvs_p": null,
"transcript": "ENST00000702803.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "ENST00000702803.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.333+5658A>G",
"hgvs_p": null,
"transcript": "ENST00000804860.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000804860.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.333+5658A>G",
"hgvs_p": null,
"transcript": "ENST00000804861.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000804861.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "DGUOK-AS1",
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"hgvs_c": "n.285+5684A>G",
"hgvs_p": null,
"transcript": "ENST00000804862.1",
"protein_id": null,
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000804862.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.258+5684A>G",
"hgvs_p": null,
"transcript": "ENST00000804863.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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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": 2,
"intron_rank": 1,
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"gene_symbol": "DGUOK-AS1",
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"hgvs_c": "n.307+5684A>G",
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"transcript": "ENST00000804864.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
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],
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"exon_count": 2,
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"gene_symbol": "DGUOK-AS1",
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"hgvs_c": "n.198+10666A>G",
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"transcript": "ENST00000804865.1",
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"biotype": "pseudogene",
"feature": "ENST00000804865.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.523+5117A>G",
"hgvs_p": null,
"transcript": "ENST00000804866.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "DGUOK-AS1",
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"hgvs_c": "n.305+5658A>G",
"hgvs_p": null,
"transcript": "ENST00000804867.1",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000804867.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.307+5684A>G",
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"transcript": "ENST00000804868.1",
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000804868.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.325+5658A>G",
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},
{
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],
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"intron_rank": 2,
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"gene_symbol": "DGUOK-AS1",
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"hgvs_c": "n.317+3729A>G",
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"transcript": "ENST00000804870.1",
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},
{
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"strand": false,
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],
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"feature": "ENST00000804871.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.310+10666A>G",
"hgvs_p": null,
"transcript": "ENST00000804872.1",
"protein_id": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000804872.1"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DGUOK-AS1",
"gene_hgnc_id": 43441,
"hgvs_c": "n.465+10299A>G",
"hgvs_p": null,
"transcript": "ENST00000804873.1",
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