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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: 3-50109627-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50109627&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50109627,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005778.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "NM_005778.4",
"protein_id": "NP_005769.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 815,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347869.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005778.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000347869.8",
"protein_id": "ENSP00000343054.3",
"transcript_support_level": 1,
"aa_start": 406,
"aa_end": null,
"aa_length": 815,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347869.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000852698.1",
"protein_id": "ENSP00000522757.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 829,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852698.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000852694.1",
"protein_id": "ENSP00000522753.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 817,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852694.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000936118.1",
"protein_id": "ENSP00000606177.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 815,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936118.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000952991.1",
"protein_id": "ENSP00000623050.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 815,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952991.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000852693.1",
"protein_id": "ENSP00000522752.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 814,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852693.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Ala403Val",
"transcript": "ENST00000852699.1",
"protein_id": "ENSP00000522758.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 812,
"cds_start": 1208,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852699.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1139C>T",
"hgvs_p": "p.Ala380Val",
"transcript": "ENST00000852692.1",
"protein_id": "ENSP00000522751.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 789,
"cds_start": 1139,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852692.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Ala378Val",
"transcript": "ENST00000852702.1",
"protein_id": "ENSP00000522761.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 787,
"cds_start": 1133,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852702.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000936121.1",
"protein_id": "ENSP00000606180.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 763,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936121.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1061C>T",
"hgvs_p": "p.Ala354Val",
"transcript": "ENST00000952988.1",
"protein_id": "ENSP00000623047.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 762,
"cds_start": 1061,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952988.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "ENST00000852695.1",
"protein_id": "ENSP00000522754.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 756,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852695.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1208C>T",
"hgvs_p": "p.Ala403Val",
"transcript": "ENST00000852697.1",
"protein_id": "ENSP00000522756.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 753,
"cds_start": 1208,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852697.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "ENST00000936119.1",
"protein_id": "ENSP00000606178.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 743,
"cds_start": 995,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936119.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "ENST00000852696.1",
"protein_id": "ENSP00000522755.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 741,
"cds_start": 995,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852696.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "ENST00000936122.1",
"protein_id": "ENSP00000606181.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 740,
"cds_start": 995,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936122.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.929C>T",
"hgvs_p": "p.Ala310Val",
"transcript": "ENST00000852701.1",
"protein_id": "ENSP00000522760.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 719,
"cds_start": 929,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852701.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.809C>T",
"hgvs_p": "p.Ala270Val",
"transcript": "ENST00000936120.1",
"protein_id": "ENSP00000606179.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 679,
"cds_start": 809,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936120.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.719C>T",
"hgvs_p": "p.Ala240Val",
"transcript": "ENST00000952989.1",
"protein_id": "ENSP00000623048.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 649,
"cds_start": 719,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952989.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.1217C>T",
"hgvs_p": "p.Ala406Val",
"transcript": "XM_006712917.3",
"protein_id": "XP_006712980.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 756,
"cds_start": 1217,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712917.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBM5",
"gene_hgnc_id": 9902,
"hgvs_c": "c.995C>T",
"hgvs_p": "p.Ala332Val",
"transcript": "XM_011533261.3",
"protein_id": "XP_011531563.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 741,
"cds_start": 995,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -5,
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{
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"pathogenic_score": 1,
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"BS2"
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"verdict": "Likely_benign",
"transcript": "NM_005778.4",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}