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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: 3-62677844-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=62677844&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 62677844,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000383710.9",
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "NM_003716.4",
"protein_id": "NP_003707.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": -4,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": "ENST00000383710.9",
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "ENST00000383710.9",
"protein_id": "ENSP00000373215.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": -4,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5507,
"mane_select": "NM_003716.4",
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "ENST00000612439.4",
"protein_id": "ENSP00000484365.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": -4,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5455,
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "ENST00000283269.13",
"protein_id": "ENSP00000283269.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1314,
"cds_start": -4,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4591,
"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": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "ENST00000357948.7",
"protein_id": "ENSP00000350632.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": -4,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5190,
"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": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "NM_001438347.1",
"protein_id": "NP_001425276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1373,
"cds_start": -4,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
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"cdna_length": 5567,
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "NM_001438348.1",
"protein_id": "NP_001425277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1369,
"cds_start": -4,
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"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": 31,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "NM_001438349.1",
"protein_id": "NP_001425278.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1357,
"cds_start": -4,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5519,
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CADPS",
"gene_hgnc_id": 1426,
"hgvs_c": "c.889-15450A>T",
"hgvs_p": null,
"transcript": "NM_001437891.1",
"protein_id": "NP_001424820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"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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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CADPS",
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"hgvs_c": "c.889-15450A>T",
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"transcript": "NM_001438350.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CADPS",
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"hgvs_c": "c.889-15450A>T",
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"transcript": "NM_183394.3",
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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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}