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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: 5-96664565-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96664565&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96664565,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001750.7",
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "NM_001750.7",
"protein_id": "NP_001741.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000675179.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001750.7"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000675179.1",
"protein_id": "ENSP00000501872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001750.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675179.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.-175+2400G>C",
"hgvs_p": null,
"transcript": "ENST00000338252.7",
"protein_id": "ENSP00000343421.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 695,
"cds_start": null,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338252.7"
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000508830.5",
"protein_id": "ENSP00000425721.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508830.5"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000852912.1",
"protein_id": "ENSP00000522971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852912.1"
},
{
"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": 32,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000852916.1",
"protein_id": "ENSP00000522975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": null,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852916.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "NM_001042441.3",
"protein_id": "NP_001035906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042441.3"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "NM_001042442.3",
"protein_id": "NP_001035907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042442.3"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000674984.1",
"protein_id": "ENSP00000501713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674984.1"
},
{
"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": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000852909.1",
"protein_id": "ENSP00000522968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852909.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 1,
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"gene_symbol": "CAST",
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"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000852911.1",
"protein_id": "ENSP00000522970.1",
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"cdna_start": null,
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"feature": "ENST00000852911.1"
},
{
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"strand": true,
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],
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"gene_symbol": "CAST",
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"transcript": "ENST00000852908.1",
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CAST",
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"hgvs_c": "c.75+2068G>C",
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"transcript": "ENST00000852910.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CAST",
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"transcript": "ENST00000852915.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CAST",
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"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000852914.1",
"protein_id": "ENSP00000522973.1",
"transcript_support_level": null,
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},
{
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],
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"gene_symbol": "CAST",
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"hgvs_c": "c.30+1399G>C",
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"transcript": "NM_001330629.2",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "CAST",
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"hgvs_c": "c.30+1399G>C",
"hgvs_p": null,
"transcript": "ENST00000506811.6",
"protein_id": "ENSP00000427092.2",
"transcript_support_level": 5,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 1,
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"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "NM_001330626.2",
"protein_id": "NP_001317555.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"transcript": "ENST00000969702.1",
"protein_id": "ENSP00000639761.1",
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},
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],
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},
{
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],
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"biotype": "protein_coding",
"feature": "ENST00000675663.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.75+2068G>C",
"hgvs_p": null,
"transcript": "ENST00000969704.1",
"protein_id": "ENSP00000639763.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969704.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
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"gene_symbol": "CAST",
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