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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: 3-12600207-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=12600207&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 12600207,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000251849.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "NM_002880.4",
"protein_id": "NP_002871.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 648,
"cds_start": 935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "ENST00000251849.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "ENST00000251849.9",
"protein_id": "ENSP00000251849.4",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 648,
"cds_start": 935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": "NM_002880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Val332Ala",
"transcript": "NM_001354689.3",
"protein_id": "NP_001341618.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 668,
"cds_start": 995,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.995T>C",
"hgvs_p": "p.Val332Ala",
"transcript": "ENST00000442415.7",
"protein_id": "ENSP00000401888.2",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 668,
"cds_start": 995,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "NM_001354690.3",
"protein_id": "NP_001341619.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 648,
"cds_start": 935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "ENST00000685653.1",
"protein_id": "ENSP00000509968.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 648,
"cds_start": 935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2640,
"cdna_end": null,
"cdna_length": 4402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "ENST00000691899.1",
"protein_id": "ENSP00000508763.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 648,
"cds_start": 935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.923T>C",
"hgvs_p": "p.Val308Ala",
"transcript": "ENST00000690460.1",
"protein_id": "ENSP00000509106.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 644,
"cds_start": 923,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Val279Ala",
"transcript": "NM_001354693.3",
"protein_id": "NP_001341622.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 615,
"cds_start": 836,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Val279Ala",
"transcript": "ENST00000685437.1",
"protein_id": "ENSP00000508794.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 615,
"cds_start": 836,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 2866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Val279Ala",
"transcript": "ENST00000688543.1",
"protein_id": "ENSP00000509612.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 615,
"cds_start": 836,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Val279Ala",
"transcript": "ENST00000692093.1",
"protein_id": "ENSP00000509669.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 615,
"cds_start": 836,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.836T>C",
"hgvs_p": "p.Val279Ala",
"transcript": "ENST00000687923.1",
"protein_id": "ENSP00000510255.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 611,
"cds_start": 836,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.824T>C",
"hgvs_p": "p.Val275Ala",
"transcript": "ENST00000690397.1",
"protein_id": "ENSP00000508730.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 611,
"cds_start": 824,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1155,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"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.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "ENST00000689389.1",
"protein_id": "ENSP00000510213.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 589,
"cds_start": 935,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.752T>C",
"hgvs_p": "p.Val251Ala",
"transcript": "NM_001354694.3",
"protein_id": "NP_001341623.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 587,
"cds_start": 752,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.710T>C",
"hgvs_p": "p.Val237Ala",
"transcript": "ENST00000693312.1",
"protein_id": "ENSP00000508686.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 573,
"cds_start": 710,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.692T>C",
"hgvs_p": "p.Val231Ala",
"transcript": "NM_001354691.3",
"protein_id": "NP_001341620.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 567,
"cds_start": 692,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.692T>C",
"hgvs_p": "p.Val231Ala",
"transcript": "NM_001354692.3",
"protein_id": "NP_001341621.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 567,
"cds_start": 692,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.593T>C",
"hgvs_p": "p.Val198Ala",
"transcript": "NM_001354695.3",
"protein_id": "NP_001341624.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 534,
"cds_start": 593,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 2979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Val85Ala",
"transcript": "ENST00000432427.3",
"protein_id": "ENSP00000398591.3",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 420,
"cds_start": 254,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "XM_011533974.3",
"protein_id": "XP_011532276.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 648,
"cds_start": 935,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 3284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAF1",
"gene_hgnc_id": 9829,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Val312Ala",
"transcript": "XM_047448649.1",
"protein_id": "XP_047304605.1",
"transcript_support_level": null,
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],
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"hom_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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{
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"BP5"
],
"verdict": "Likely_benign",
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"effects": [
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],
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],
"clinvar_disease": "Cardiovascular phenotype,Hypertrophic cardiomyopathy 1,RASopathy,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:2 LB:5",
"phenotype_combined": "not specified|Cardiovascular phenotype|RASopathy|Hypertrophic cardiomyopathy 1|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}