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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: 3-12584962-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12584962&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12584962,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000251849.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 648,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 648,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 668,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1748G>A",
"hgvs_p": "p.Arg583Gln",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 583,
"aa_end": null,
"aa_length": 668,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 648,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 648,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 3393,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 648,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1676G>A",
"hgvs_p": "p.Arg559Gln",
"transcript": "ENST00000690460.1",
"protein_id": "ENSP00000509106.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 644,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 2007,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530Gln",
"transcript": "NM_001354693.3",
"protein_id": "NP_001341622.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 615,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530Gln",
"transcript": "ENST00000685437.1",
"protein_id": "ENSP00000508794.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 615,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2013,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530Gln",
"transcript": "ENST00000688543.1",
"protein_id": "ENSP00000509612.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 615,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1990,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1589G>A",
"hgvs_p": "p.Arg530Gln",
"transcript": "ENST00000692093.1",
"protein_id": "ENSP00000509669.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 615,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"transcript": "ENST00000687923.1",
"protein_id": "ENSP00000510255.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 611,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526Gln",
"transcript": "ENST00000690397.1",
"protein_id": "ENSP00000508730.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 611,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Arg504Gln",
"transcript": "ENST00000689389.1",
"protein_id": "ENSP00000510213.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 589,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1845,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Arg502Gln",
"transcript": "NM_001354694.3",
"protein_id": "NP_001341623.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 587,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488Gln",
"transcript": "ENST00000693312.1",
"protein_id": "ENSP00000508686.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 573,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"transcript": "NM_001354691.3",
"protein_id": "NP_001341620.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 567,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1445G>A",
"hgvs_p": "p.Arg482Gln",
"transcript": "NM_001354692.3",
"protein_id": "NP_001341621.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 567,
"cds_start": 1445,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1346G>A",
"hgvs_p": "p.Arg449Gln",
"transcript": "NM_001354695.3",
"protein_id": "NP_001341624.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 534,
"cds_start": 1346,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"transcript": "ENST00000432427.3",
"protein_id": "ENSP00000398591.3",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 420,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187Gln",
"transcript": "ENST00000691888.1",
"protein_id": "ENSP00000510730.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 272,
"cds_start": 560,
"cds_end": null,
"cds_length": 819,
"cdna_start": 562,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1688G>A",
"hgvs_p": "p.Arg563Gln",
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{
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],
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"phenotype_combined": "not specified|not provided|RASopathy|Cardiovascular phenotype",
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}
],
"message": null
}