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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: 7-95102242-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=95102242&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 95102242,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000433360.6",
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "NM_001166160.2",
"protein_id": "NP_001159632.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "ENST00000433360.6",
"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": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "ENST00000433360.6",
"protein_id": "ENSP00000405514.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": -4,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10547,
"mane_select": "NM_001166160.2",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "ENST00000289495.7",
"protein_id": "ENSP00000289495.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3983,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "ENST00000456331.6",
"protein_id": "ENSP00000402893.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10090,
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "NM_001166161.1",
"protein_id": "NP_001159633.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1296,
"cds_start": -4,
"cds_end": null,
"cds_length": 3891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10219,
"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": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "NM_001166162.1",
"protein_id": "NP_001159634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10090,
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "ENST00000424654.5",
"protein_id": "ENSP00000411342.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1253,
"cds_start": -4,
"cds_end": null,
"cds_length": 3762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4058,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "NM_017650.3",
"protein_id": "NP_060120.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9719,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "ENST00000340694.8",
"protein_id": "ENSP00000344524.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1098,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 9689,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "ENST00000433881.5",
"protein_id": "ENSP00000398870.1",
"transcript_support_level": 5,
"aa_start": null,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 1,
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"gene_symbol": "PPP1R9A",
"gene_hgnc_id": 14946,
"hgvs_c": "c.1396-9017G>C",
"hgvs_p": null,
"transcript": "NM_001166163.1",
"protein_id": "NP_001159635.1",
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},
{
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],
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"gene_symbol": "PPP1R9A-AS1",
"gene_hgnc_id": 40696,
"hgvs_c": "n.149-65461C>G",
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"transcript": "ENST00000637269.2",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "PPP1R9A-AS1",
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"hgvs_c": "n.405+6625C>G",
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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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"gene_symbol": "PPP1R9A",
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"hgvs_c": "c.1396-9017G>C",
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],
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],
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],
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},
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],
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"gene_symbol": "PPP1R9A",
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"hgvs_c": "c.1396-9017G>C",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "PPP1R9A",
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"hgvs_c": "c.1396-9017G>C",
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}