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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: 2-232735242-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232735242&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232735242,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_001103146.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "NM_001103146.3",
"protein_id": "NP_001096616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "ENST00000373563.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000373563.9",
"protein_id": "ENSP00000362664.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "NM_001103146.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000409451.7",
"protein_id": "ENSP00000387170.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000409547.5",
"protein_id": "ENSP00000386537.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000409196.7",
"protein_id": "ENSP00000387070.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1293,
"cds_start": -4,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000440945.5",
"protein_id": "ENSP00000410297.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000464805.5",
"protein_id": "ENSP00000503017.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": -4,
"cds_end": null,
"cds_length": 42,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000482666.5",
"protein_id": "ENSP00000504332.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 13,
"cds_start": -4,
"cds_end": null,
"cds_length": 42,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.158A>G",
"hgvs_p": null,
"transcript": "ENST00000484409.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "n.216A>G",
"hgvs_p": null,
"transcript": "ENST00000488629.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000409480.5",
"protein_id": "ENSP00000386765.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": -4,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000629305.2",
"protein_id": "ENSP00000487548.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": -4,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "NM_001103147.2",
"protein_id": "NP_001096617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1320,
"cds_start": -4,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "NM_015575.4",
"protein_id": "NP_056390.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1299,
"cds_start": -4,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "NM_001103148.2",
"protein_id": "NP_001096618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1293,
"cds_start": -4,
"cds_end": null,
"cds_length": 3882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000423659.5",
"protein_id": "ENSP00000404195.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 719,
"cds_start": -4,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000428883.5",
"protein_id": "ENSP00000402712.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000430720.5",
"protein_id": "ENSP00000396958.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000429187.5",
"protein_id": "ENSP00000392991.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000425040.5",
"protein_id": "ENSP00000407161.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000421433.5",
"protein_id": "ENSP00000402053.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 92,
"cds_start": -4,
"cds_end": null,
"cds_length": 280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.41+4A>G",
"hgvs_p": null,
"transcript": "ENST00000456491.5",
"protein_id": "ENSP00000413612.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": -4,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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}