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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: 10-6220791-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=6220791&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 6220791,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001363545.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "NM_004566.4",
"protein_id": "NP_004557.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 757,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": "ENST00000379775.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004566.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000379775.9",
"protein_id": "ENSP00000369100.4",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 757,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4482,
"mane_select": "NM_004566.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379775.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Trp",
"transcript": "ENST00000379789.8",
"protein_id": "ENSP00000369115.4",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 500,
"cds_start": 697,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 4157,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379789.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "NM_001363545.2",
"protein_id": "NP_001350474.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 568,
"cds_start": 757,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363545.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000640683.1",
"protein_id": "ENSP00000492001.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 568,
"cds_start": 757,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640683.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "NM_001282630.3",
"protein_id": "NP_001269559.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 534,
"cds_start": 799,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 4326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282630.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.799C>T",
"hgvs_p": "p.Arg267Trp",
"transcript": "ENST00000536985.6",
"protein_id": "ENSP00000443319.2",
"transcript_support_level": 2,
"aa_start": 267,
"aa_end": null,
"aa_length": 534,
"cds_start": 799,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 2094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536985.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000937282.1",
"protein_id": "ENSP00000607341.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 531,
"cds_start": 757,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937282.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000379785.5",
"protein_id": "ENSP00000369111.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 526,
"cds_start": 757,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379785.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000626882.2",
"protein_id": "ENSP00000487277.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 526,
"cds_start": 757,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626882.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000900115.1",
"protein_id": "ENSP00000570174.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 757,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 974,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900115.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000937281.1",
"protein_id": "ENSP00000607340.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 520,
"cds_start": 757,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 4352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937281.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000937283.1",
"protein_id": "ENSP00000607342.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 517,
"cds_start": 757,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937283.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "NM_001314063.2",
"protein_id": "NP_001300992.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 514,
"cds_start": 757,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001314063.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000360521.7",
"protein_id": "ENSP00000353712.2",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 514,
"cds_start": 757,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360521.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000317350.8",
"protein_id": "ENSP00000369105.3",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 513,
"cds_start": 757,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1152,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317350.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Trp",
"transcript": "NM_001145443.3",
"protein_id": "NP_001138915.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 500,
"cds_start": 697,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145443.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.697C>T",
"hgvs_p": "p.Arg233Trp",
"transcript": "NM_001323016.2",
"protein_id": "NP_001309945.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 494,
"cds_start": 697,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323016.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000900116.1",
"protein_id": "ENSP00000570175.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 485,
"cds_start": 757,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900116.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.757C>T",
"hgvs_p": "p.Arg253Trp",
"transcript": "ENST00000625260.2",
"protein_id": "ENSP00000486311.1",
"transcript_support_level": 5,
"aa_start": 253,
"aa_end": null,
"aa_length": 455,
"cds_start": 757,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000625260.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Trp",
"transcript": "NM_001323017.2",
"protein_id": "NP_001309946.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 337,
"cds_start": 208,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323017.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFKFB3",
"gene_hgnc_id": 8874,
"hgvs_c": "c.700C>T",
"hgvs_p": "p.Arg234Trp",
"transcript": "XM_017016329.2",
"protein_id": "XP_016871818.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 501,
"cds_start": 700,
"cds_end": null,
"cds_length": 1506,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}