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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: 3-12590854-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12590854&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12590854,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000251849.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "n.1125C>T",
"hgvs_p": null,
"transcript": "ENST00000494557.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 4000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1374C>T",
"hgvs_p": "p.Thr458Thr",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 668,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1374C>T",
"hgvs_p": "p.Thr458Thr",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 668,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Thr438Thr",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 3019,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>T",
"hgvs_p": "p.Thr438Thr",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 648,
"cds_start": 1314,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1302C>T",
"hgvs_p": "p.Thr434Thr",
"transcript": "ENST00000690460.1",
"protein_id": "ENSP00000509106.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 644,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "NM_001354693.3",
"protein_id": "NP_001341622.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 615,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "ENST00000685437.1",
"protein_id": "ENSP00000508794.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 615,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "ENST00000688543.1",
"protein_id": "ENSP00000509612.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 615,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1215C>T",
"hgvs_p": "p.Thr405Thr",
"transcript": "ENST00000692093.1",
"protein_id": "ENSP00000509669.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 615,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Thr401Thr",
"transcript": "ENST00000687923.1",
"protein_id": "ENSP00000510255.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 611,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1203C>T",
"hgvs_p": "p.Thr401Thr",
"transcript": "ENST00000690397.1",
"protein_id": "ENSP00000508730.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 611,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Thr377Thr",
"transcript": "NM_001354694.3",
"protein_id": "NP_001341623.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 587,
"cds_start": 1131,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1089C>T",
"hgvs_p": "p.Thr363Thr",
"transcript": "ENST00000693312.1",
"protein_id": "ENSP00000508686.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 573,
"cds_start": 1089,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Thr357Thr",
"transcript": "NM_001354691.3",
"protein_id": "NP_001341620.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 567,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1071C>T",
"hgvs_p": "p.Thr357Thr",
"transcript": "NM_001354692.3",
"protein_id": "NP_001341621.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 567,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.972C>T",
"hgvs_p": "p.Thr324Thr",
"transcript": "NM_001354695.3",
"protein_id": "NP_001341624.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 534,
"cds_start": 972,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1433,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.630C>T",
"hgvs_p": "p.Thr210Thr",
"transcript": "ENST00000432427.3",
"protein_id": "ENSP00000398591.3",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 420,
"cds_start": 630,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.204C>T",
"hgvs_p": "p.Thr68Thr",
"transcript": "ENST00000691888.1",
"protein_id": "ENSP00000510730.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 272,
"cds_start": 204,
"cds_end": null,
"cds_length": 819,
"cdna_start": 206,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1314C>T",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5",
"phenotype_combined": "not specified|not provided|RASopathy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}