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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: 14-60289266-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=60289266&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 60289266,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000395076.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.953-540C>T",
"hgvs_p": null,
"transcript": "NM_021003.5",
"protein_id": "NP_066283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": "ENST00000395076.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.953-540C>T",
"hgvs_p": null,
"transcript": "ENST00000395076.9",
"protein_id": "ENSP00000378514.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8231,
"mane_select": "NM_021003.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "n.*977-540C>T",
"hgvs_p": null,
"transcript": "ENST00000531143.6",
"protein_id": "ENSP00000437200.2",
"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": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.1172-540C>T",
"hgvs_p": null,
"transcript": "NM_177952.3",
"protein_id": "NP_808821.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.1172-540C>T",
"hgvs_p": null,
"transcript": "ENST00000325642.7",
"protein_id": "ENSP00000327255.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "n.429-540C>T",
"hgvs_p": null,
"transcript": "ENST00000532036.2",
"protein_id": "ENSP00000436445.2",
"transcript_support_level": 5,
"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": 1561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.1031-540C>T",
"hgvs_p": null,
"transcript": "XM_017021383.2",
"protein_id": "XP_016876872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": -4,
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"cds_length": 1227,
"cdna_start": null,
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"cdna_length": 8351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.1031-540C>T",
"hgvs_p": null,
"transcript": "XM_047431499.1",
"protein_id": "XP_047287455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"cds_start": -4,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPM1A",
"gene_hgnc_id": 9275,
"hgvs_c": "c.1031-540C>T",
"hgvs_p": null,
"transcript": "XM_047431500.1",
"protein_id": "XP_047287456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 408,
"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
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"gene_symbol": "PPM1A",
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"hgvs_c": "c.1031-540C>T",
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"transcript": "XM_047431501.1",
"protein_id": "XP_047287457.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "PPM1A",
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"hgvs_c": "c.1025-540C>T",
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"transcript": "XM_047431502.1",
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},
{
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],
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},
{
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],
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],
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],
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},
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],
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},
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],
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"hgvs_c": "c.953-540C>T",
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"transcript": "XM_047431506.1",
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],
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"gene_symbol": "PPM1A",
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],
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}
],
"message": null
}