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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: 2-232847538-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=232847538&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 232847538,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001103147.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "NM_001103146.3",
"protein_id": "NP_001096616.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3822,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "ENST00000373563.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103146.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000373563.9",
"protein_id": "ENSP00000362664.5",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3822,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": "NM_001103146.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373563.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3714G>C",
"hgvs_p": "p.Pro1238Pro",
"transcript": "ENST00000409451.7",
"protein_id": "ENSP00000387170.3",
"transcript_support_level": 1,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3714,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3940,
"cdna_end": null,
"cdna_length": 5937,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409451.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000409547.5",
"protein_id": "ENSP00000386537.1",
"transcript_support_level": 1,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409547.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3633G>C",
"hgvs_p": "p.Pro1211Pro",
"transcript": "ENST00000409196.7",
"protein_id": "ENSP00000387070.3",
"transcript_support_level": 1,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1293,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3882,
"cdna_start": 3731,
"cdna_end": null,
"cdna_length": 5747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409196.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3717G>C",
"hgvs_p": "p.Pro1239Pro",
"transcript": "ENST00000409480.5",
"protein_id": "ENSP00000386765.1",
"transcript_support_level": 5,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3717,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3979,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409480.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3717G>C",
"hgvs_p": "p.Pro1239Pro",
"transcript": "ENST00000629305.2",
"protein_id": "ENSP00000487548.1",
"transcript_support_level": 5,
"aa_start": 1239,
"aa_end": null,
"aa_length": 1321,
"cds_start": 3717,
"cds_end": null,
"cds_length": 3966,
"cdna_start": 3914,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629305.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3714G>C",
"hgvs_p": "p.Pro1238Pro",
"transcript": "NM_001103147.2",
"protein_id": "NP_001096617.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3714,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 7921,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001103147.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "NM_015575.4",
"protein_id": "NP_056390.2",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3962,
"cdna_end": null,
"cdna_length": 7928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015575.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869690.1",
"protein_id": "ENSP00000539749.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3828,
"cdna_end": null,
"cdna_length": 6429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869690.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869691.1",
"protein_id": "ENSP00000539750.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4041,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869691.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869692.1",
"protein_id": "ENSP00000539751.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 5919,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869692.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869693.1",
"protein_id": "ENSP00000539752.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3934,
"cdna_end": null,
"cdna_length": 5910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869693.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869695.1",
"protein_id": "ENSP00000539754.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4054,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869695.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869696.1",
"protein_id": "ENSP00000539755.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4123,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869696.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000869697.1",
"protein_id": "ENSP00000539756.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4039,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869697.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000933239.1",
"protein_id": "ENSP00000603298.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 3950,
"cdna_end": null,
"cdna_length": 5966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933239.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000933241.1",
"protein_id": "ENSP00000603300.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4011,
"cdna_end": null,
"cdna_length": 6027,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933241.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000933242.1",
"protein_id": "ENSP00000603301.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4054,
"cdna_end": null,
"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933242.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000933246.1",
"protein_id": "ENSP00000603305.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4257,
"cdna_end": null,
"cdna_length": 6273,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933246.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"hgvs_c": "c.3651G>C",
"hgvs_p": "p.Pro1217Pro",
"transcript": "ENST00000933247.1",
"protein_id": "ENSP00000603306.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1299,
"cds_start": 3651,
"cds_end": null,
"cds_length": 3900,
"cdna_start": 4037,
"cdna_end": null,
"cdna_length": 5909,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933247.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
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"feature": "ENST00000678885.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "GIGYF2",
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"hgvs_c": "n.2686G>C",
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"transcript": "ENST00000474312.5",
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"transcript_support_level": 2,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 4687,
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"biotype": "retained_intron",
"feature": "ENST00000474312.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GIGYF2",
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"hgvs_c": "n.3609G>C",
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"transcript": "NR_103492.1",
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
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"cdna_start": null,
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"cdna_length": 7575,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_103492.1"
}
],
"gene_symbol": "GIGYF2",
"gene_hgnc_id": 11960,
"dbsnp": "rs12328151",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8100000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.437,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001103147.2",
"gene_symbol": "GIGYF2",
"hgnc_id": 11960,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.3714G>C",
"hgvs_p": "p.Pro1238Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}