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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: 2-178449632-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178449632&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178449632,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000325748.9",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.235+610C>T",
"hgvs_p": null,
"transcript": "NM_003690.5",
"protein_id": "NP_003681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": "ENST00000325748.9",
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.235+610C>T",
"hgvs_p": null,
"transcript": "ENST00000325748.9",
"protein_id": "ENSP00000318176.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1770,
"mane_select": "NM_003690.5",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.202+610C>T",
"hgvs_p": null,
"transcript": "ENST00000432031.6",
"protein_id": "ENSP00000393883.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1344,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.160+610C>T",
"hgvs_p": null,
"transcript": "ENST00000487082.5",
"protein_id": "ENSP00000430604.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1211,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.202+610C>T",
"hgvs_p": null,
"transcript": "NM_001139517.1",
"protein_id": "NP_001132989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.160+610C>T",
"hgvs_p": null,
"transcript": "NM_001139518.1",
"protein_id": "NP_001132990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1627,
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.65+1334C>T",
"hgvs_p": null,
"transcript": "ENST00000677981.1",
"protein_id": "ENSP00000503536.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 229,
"cds_start": -4,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
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"cdna_length": 1455,
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-70+1334C>T",
"hgvs_p": null,
"transcript": "ENST00000677689.1",
"protein_id": "ENSP00000502919.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1610,
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-215+610C>T",
"hgvs_p": null,
"transcript": "NM_001316362.2",
"protein_id": "NP_001303291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1880,
"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": 8,
"intron_rank": 1,
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"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-264+1334C>T",
"hgvs_p": null,
"transcript": "ENST00000678775.1",
"protein_id": "ENSP00000504030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 200,
"cds_start": -4,
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"cdna_start": null,
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"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,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "c.-105+1334C>T",
"hgvs_p": null,
"transcript": "ENST00000678845.1",
"protein_id": "ENSP00000503011.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "PRKRA",
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"transcript": "ENST00000424699.5",
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},
{
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],
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"gene_symbol": "PRKRA",
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"transcript": "ENST00000448279.2",
"protein_id": "ENSP00000388455.1",
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},
{
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],
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"gene_symbol": "PRKRA",
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"hgvs_c": "n.202+610C>T",
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PRKRA",
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"transcript": "ENST00000466165.1",
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},
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.78+734C>T",
"hgvs_p": null,
"transcript": "ENST00000676505.1",
"protein_id": "ENSP00000504163.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.111+734C>T",
"hgvs_p": null,
"transcript": "ENST00000676832.1",
"protein_id": "ENSP00000503231.1",
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},
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],
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "PRKRA",
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"hgvs_c": "n.235+610C>T",
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"transcript": "ENST00000677253.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "PRKRA",
"gene_hgnc_id": 9438,
"hgvs_c": "n.235+610C>T",
"hgvs_p": null,
"transcript": "ENST00000677386.1",
"protein_id": "ENSP00000503003.1",
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},
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}