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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: 3-12584624-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12584624&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12584624,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000251849.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 648,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 613,
"aa_end": null,
"aa_length": 648,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1897C>G",
"hgvs_p": "p.Leu633Val",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 668,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1897C>G",
"hgvs_p": "p.Leu633Val",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 633,
"aa_end": null,
"aa_length": 668,
"cds_start": 1897,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 648,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 648,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 3542,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 648,
"cds_start": 1837,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1825C>G",
"hgvs_p": "p.Leu609Val",
"transcript": "ENST00000690460.1",
"protein_id": "ENSP00000509106.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 644,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Leu580Val",
"transcript": "NM_001354693.3",
"protein_id": "NP_001341622.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 615,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Leu580Val",
"transcript": "ENST00000685437.1",
"protein_id": "ENSP00000508794.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 615,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Leu580Val",
"transcript": "ENST00000688543.1",
"protein_id": "ENSP00000509612.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 615,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Leu580Val",
"transcript": "ENST00000692093.1",
"protein_id": "ENSP00000509669.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 615,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2171,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "ENST00000687923.1",
"protein_id": "ENSP00000510255.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 611,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1726C>G",
"hgvs_p": "p.Leu576Val",
"transcript": "ENST00000690397.1",
"protein_id": "ENSP00000508730.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 611,
"cds_start": 1726,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1660C>G",
"hgvs_p": "p.Leu554Val",
"transcript": "ENST00000689389.1",
"protein_id": "ENSP00000510213.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 589,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1654C>G",
"hgvs_p": "p.Leu552Val",
"transcript": "NM_001354694.3",
"protein_id": "NP_001341623.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 587,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1612C>G",
"hgvs_p": "p.Leu538Val",
"transcript": "ENST00000693312.1",
"protein_id": "ENSP00000508686.1",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 573,
"cds_start": 1612,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1913,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1594C>G",
"hgvs_p": "p.Leu532Val",
"transcript": "NM_001354691.3",
"protein_id": "NP_001341620.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 567,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1594C>G",
"hgvs_p": "p.Leu532Val",
"transcript": "NM_001354692.3",
"protein_id": "NP_001341621.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 567,
"cds_start": 1594,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1495C>G",
"hgvs_p": "p.Leu499Val",
"transcript": "NM_001354695.3",
"protein_id": "NP_001341624.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 534,
"cds_start": 1495,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1153C>G",
"hgvs_p": "p.Leu385Val",
"transcript": "ENST00000432427.3",
"protein_id": "ENSP00000398591.3",
"transcript_support_level": 5,
"aa_start": 385,
"aa_end": null,
"aa_length": 420,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.709C>G",
"hgvs_p": "p.Leu237Val",
"transcript": "ENST00000691888.1",
"protein_id": "ENSP00000510730.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 272,
"cds_start": 709,
"cds_end": null,
"cds_length": 819,
"cdna_start": 711,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.1837C>G",
"hgvs_p": "p.Leu613Val",
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{
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:8 O:1",
"phenotype_combined": "Noonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome with multiple lentigines|RASopathy|not provided|Noonan syndrome;Noonan syndrome with multiple lentigines|Hypertrophic cardiomyopathy 1|RAF1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}