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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: 6-33293041-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33293041&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33293041,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004761.5",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.Asp661Gly",
"transcript": "NM_004761.5",
"protein_id": "NP_004752.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 777,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 2896,
"mane_select": "ENST00000497454.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004761.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.Asp661Gly",
"transcript": "ENST00000497454.6",
"protein_id": "ENSP00000420211.1",
"transcript_support_level": 1,
"aa_start": 661,
"aa_end": null,
"aa_length": 777,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2096,
"cdna_end": null,
"cdna_length": 2896,
"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": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "n.1887A>G",
"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": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000437840.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.2042A>G",
"hgvs_p": "p.Asp681Gly",
"transcript": "ENST00000968840.1",
"protein_id": "ENSP00000638899.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 797,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2394,
"cdna_start": 2157,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968840.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.2027A>G",
"hgvs_p": "p.Asp676Gly",
"transcript": "ENST00000968838.1",
"protein_id": "ENSP00000638897.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 792,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968838.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.2003A>G",
"hgvs_p": "p.Asp668Gly",
"transcript": "ENST00000908150.1",
"protein_id": "ENSP00000578209.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 784,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908150.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1982A>G",
"hgvs_p": "p.Asp661Gly",
"transcript": "ENST00000968835.1",
"protein_id": "ENSP00000638894.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 777,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968835.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.Asp660Gly",
"transcript": "ENST00000908151.1",
"protein_id": "ENSP00000578210.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 776,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908151.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1976A>G",
"hgvs_p": "p.Asp659Gly",
"transcript": "ENST00000968834.1",
"protein_id": "ENSP00000638893.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 775,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968834.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Asp658Gly",
"transcript": "ENST00000908156.1",
"protein_id": "ENSP00000578215.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 774,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2071,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908156.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1973A>G",
"hgvs_p": "p.Asp658Gly",
"transcript": "ENST00000968841.1",
"protein_id": "ENSP00000638900.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 774,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968841.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1946A>G",
"hgvs_p": "p.Asp649Gly",
"transcript": "ENST00000968837.1",
"protein_id": "ENSP00000638896.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 765,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2298,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968837.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1928A>G",
"hgvs_p": "p.Asp643Gly",
"transcript": "ENST00000908153.1",
"protein_id": "ENSP00000578212.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 759,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 2859,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908153.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1907A>G",
"hgvs_p": "p.Asp636Gly",
"transcript": "ENST00000908154.1",
"protein_id": "ENSP00000578213.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 752,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2038,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908154.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1907A>G",
"hgvs_p": "p.Asp636Gly",
"transcript": "ENST00000968836.1",
"protein_id": "ENSP00000638895.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 752,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968836.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1901A>G",
"hgvs_p": "p.Asp634Gly",
"transcript": "ENST00000908152.1",
"protein_id": "ENSP00000578211.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 750,
"cds_start": 1901,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 2847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908152.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1898A>G",
"hgvs_p": "p.Asp633Gly",
"transcript": "ENST00000968842.1",
"protein_id": "ENSP00000638901.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 749,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968842.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1886A>G",
"hgvs_p": "p.Asp629Gly",
"transcript": "ENST00000908155.1",
"protein_id": "ENSP00000578214.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 745,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2238,
"cdna_start": 2015,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908155.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1736A>G",
"hgvs_p": "p.Asp579Gly",
"transcript": "NM_001243738.2",
"protein_id": "NP_001230667.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 695,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 2699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243738.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.1412A>G",
"hgvs_p": "p.Asp471Gly",
"transcript": "ENST00000913501.1",
"protein_id": "ENSP00000583560.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 587,
"cds_start": 1412,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 2336,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913501.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGL2",
"gene_hgnc_id": 9769,
"hgvs_c": "c.2051A>G",
"hgvs_p": "p.Asp684Gly",
"transcript": "XM_047419199.1",
"protein_id": "XP_047275155.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 800,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419199.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.1976A>G",
"hgvs_p": "p.Asp659Gly",
"transcript": "XM_047419200.1",
"protein_id": "XP_047275156.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 775,
"cds_start": 1976,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 2881,
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],
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"computational_prediction_selected": "Uncertain_significance",
"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": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_004761.5",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -4,
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"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "ENST00000463584.1",
"gene_symbol": "PFDN6",
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"effects": [
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],
"inheritance_mode": "",
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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
}