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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: 6-33293426-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33293426&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33293426,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004761.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Thr568Ile",
"transcript": "NM_004761.5",
"protein_id": "NP_004752.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 777,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000497454.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004761.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Thr568Ile",
"transcript": "ENST00000497454.6",
"protein_id": "ENSP00000420211.1",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 777,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004761.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497454.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "n.1608C>T",
"hgvs_p": null,
"transcript": "ENST00000437840.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000437840.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Thr588Ile",
"transcript": "ENST00000968840.1",
"protein_id": "ENSP00000638899.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 797,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968840.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1748C>T",
"hgvs_p": "p.Thr583Ile",
"transcript": "ENST00000968838.1",
"protein_id": "ENSP00000638897.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 792,
"cds_start": 1748,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968838.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Thr575Ile",
"transcript": "ENST00000908150.1",
"protein_id": "ENSP00000578209.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 784,
"cds_start": 1724,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908150.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Thr568Ile",
"transcript": "ENST00000968835.1",
"protein_id": "ENSP00000638894.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 777,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968835.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1700C>T",
"hgvs_p": "p.Thr567Ile",
"transcript": "ENST00000908151.1",
"protein_id": "ENSP00000578210.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 776,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908151.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1697C>T",
"hgvs_p": "p.Thr566Ile",
"transcript": "ENST00000968834.1",
"protein_id": "ENSP00000638893.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 775,
"cds_start": 1697,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968834.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Ile",
"transcript": "ENST00000908156.1",
"protein_id": "ENSP00000578215.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 774,
"cds_start": 1694,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908156.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Thr568Ile",
"transcript": "ENST00000968841.1",
"protein_id": "ENSP00000638900.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 774,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968841.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1667C>T",
"hgvs_p": "p.Thr556Ile",
"transcript": "ENST00000968837.1",
"protein_id": "ENSP00000638896.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 765,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968837.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1649C>T",
"hgvs_p": "p.Thr550Ile",
"transcript": "ENST00000908153.1",
"protein_id": "ENSP00000578212.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 759,
"cds_start": 1649,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908153.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1628C>T",
"hgvs_p": "p.Thr543Ile",
"transcript": "ENST00000908154.1",
"protein_id": "ENSP00000578213.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 752,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908154.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1628C>T",
"hgvs_p": "p.Thr543Ile",
"transcript": "ENST00000968836.1",
"protein_id": "ENSP00000638895.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 752,
"cds_start": 1628,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968836.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1622C>T",
"hgvs_p": "p.Thr541Ile",
"transcript": "ENST00000908152.1",
"protein_id": "ENSP00000578211.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 750,
"cds_start": 1622,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908152.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1619C>T",
"hgvs_p": "p.Thr540Ile",
"transcript": "ENST00000968842.1",
"protein_id": "ENSP00000638901.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 749,
"cds_start": 1619,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968842.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Thr536Ile",
"transcript": "ENST00000908155.1",
"protein_id": "ENSP00000578214.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 745,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908155.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Thr486Ile",
"transcript": "NM_001243738.2",
"protein_id": "NP_001230667.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 695,
"cds_start": 1457,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243738.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1703C>T",
"hgvs_p": "p.Thr568Ile",
"transcript": "ENST00000968839.1",
"protein_id": "ENSP00000638898.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 680,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968839.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1133C>T",
"hgvs_p": "p.Thr378Ile",
"transcript": "ENST00000913501.1",
"protein_id": "ENSP00000583560.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 587,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913501.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Thr591Ile",
"transcript": "XM_047419199.1",
"protein_id": "XP_047275155.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 800,
"cds_start": 1772,
"cds_end": null,
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"cdna_start": null,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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{
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],
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],
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"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
}