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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: 7-31907224-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=31907224&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 31907224,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000396191.6",
"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": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
"hgvs_p": null,
"transcript": "NM_001191057.4",
"protein_id": "NP_001177986.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": -4,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": "ENST00000396191.6",
"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": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
"hgvs_p": null,
"transcript": "ENST00000396191.6",
"protein_id": "ENSP00000379494.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": -4,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4349,
"mane_select": "NM_001191057.4",
"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": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
"hgvs_p": null,
"transcript": "ENST00000396182.6",
"protein_id": "ENSP00000379485.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2420,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
"hgvs_p": null,
"transcript": "ENST00000396184.7",
"protein_id": "ENSP00000379487.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 634,
"cds_start": -4,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8852,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.309-26364C>T",
"hgvs_p": null,
"transcript": "NM_001191058.4",
"protein_id": "NP_001177987.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5108,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.534-26364C>T",
"hgvs_p": null,
"transcript": "NM_001322059.2",
"protein_id": "NP_001308988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9139,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.309-26364C>T",
"hgvs_p": null,
"transcript": "ENST00000396193.5",
"protein_id": "ENSP00000379496.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5109,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
"hgvs_p": null,
"transcript": "NM_001191059.4",
"protein_id": "NP_001177988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": -4,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4387,
"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": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
"hgvs_p": null,
"transcript": "NM_001322055.2",
"protein_id": "NP_001308984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 709,
"cds_start": -4,
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"cds_length": 2130,
"cdna_start": null,
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"cdna_length": 4622,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 3,
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"gene_symbol": "PDE1C",
"gene_hgnc_id": 8776,
"hgvs_c": "c.129-26364C>T",
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"transcript": "ENST00000321453.12",
"protein_id": "ENSP00000318105.7",
"transcript_support_level": 2,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "PDE1C",
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"hgvs_c": "c.309-26364C>T",
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"transcript": "NM_001322058.2",
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},
{
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],
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},
{
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],
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"gene_symbol": "PDE1C",
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"hgvs_c": "c.129-26364C>T",
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},
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],
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"gene_symbol": "PDE1C",
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"hgvs_c": "c.129-26364C>T",
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},
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],
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},
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],
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},
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],
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"transcript": "XM_017012264.1",
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],
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],
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"hgvs_c": "c.129-26364C>T",
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},
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],
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