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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: 3-12599802-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12599802&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12599802,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000251849.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 648,
"cds_start": 997,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 648,
"cds_start": 997,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1057C>G",
"hgvs_p": "p.Arg353Gly",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 668,
"cds_start": 1057,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1057C>G",
"hgvs_p": "p.Arg353Gly",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 668,
"cds_start": 1057,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 648,
"cds_start": 997,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 648,
"cds_start": 997,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2702,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 648,
"cds_start": 997,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.Arg329Gly",
"transcript": "ENST00000690460.1",
"protein_id": "ENSP00000509106.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 644,
"cds_start": 985,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Arg300Gly",
"transcript": "NM_001354693.3",
"protein_id": "NP_001341622.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 615,
"cds_start": 898,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Arg300Gly",
"transcript": "ENST00000685437.1",
"protein_id": "ENSP00000508794.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 615,
"cds_start": 898,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1322,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Arg300Gly",
"transcript": "ENST00000688543.1",
"protein_id": "ENSP00000509612.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 615,
"cds_start": 898,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Arg300Gly",
"transcript": "ENST00000692093.1",
"protein_id": "ENSP00000509669.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 615,
"cds_start": 898,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.898C>G",
"hgvs_p": "p.Arg300Gly",
"transcript": "ENST00000687923.1",
"protein_id": "ENSP00000510255.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 611,
"cds_start": 898,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.886C>G",
"hgvs_p": "p.Arg296Gly",
"transcript": "ENST00000690397.1",
"protein_id": "ENSP00000508730.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 611,
"cds_start": 886,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "ENST00000689389.1",
"protein_id": "ENSP00000510213.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 589,
"cds_start": 997,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.814C>G",
"hgvs_p": "p.Arg272Gly",
"transcript": "NM_001354694.3",
"protein_id": "NP_001341623.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 587,
"cds_start": 814,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.772C>G",
"hgvs_p": "p.Arg258Gly",
"transcript": "ENST00000693312.1",
"protein_id": "ENSP00000508686.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 573,
"cds_start": 772,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1073,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Arg252Gly",
"transcript": "NM_001354691.3",
"protein_id": "NP_001341620.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 567,
"cds_start": 754,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.754C>G",
"hgvs_p": "p.Arg252Gly",
"transcript": "NM_001354692.3",
"protein_id": "NP_001341621.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 567,
"cds_start": 754,
"cds_end": null,
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"cdna_start": 1215,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Arg219Gly",
"transcript": "NM_001354695.3",
"protein_id": "NP_001341624.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 534,
"cds_start": 655,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1116,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.316C>G",
"hgvs_p": "p.Arg106Gly",
"transcript": "ENST00000432427.3",
"protein_id": "ENSP00000398591.3",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 420,
"cds_start": 316,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 317,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "XM_011533974.3",
"protein_id": "XP_011532276.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 648,
"cds_start": 997,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.997C>G",
"hgvs_p": "p.Arg333Gly",
"transcript": "XM_047448649.1",
"protein_id": "XP_047304605.1",
"transcript_support_level": null,
"aa_start": 333,
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}
],
"message": null
}