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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: 3-52563363-CCTCACTAT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52563363&ref=CCTCACTAT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52563363,
"ref": "CCTCACTAT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000707071.1",
"consequences": [
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4043_4050delATAGTGAG",
"hgvs_p": "p.Asp1348fs",
"transcript": "ENST00000707071.1",
"protein_id": "ENSP00000516722.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4043,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4230,
"cdna_end": null,
"cdna_length": 7991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "ENST00000296302.11",
"protein_id": "ENSP00000296302.7",
"transcript_support_level": 1,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1689,
"cds_start": 3998,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4007,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4043_4050delATAGTGAG",
"hgvs_p": "p.Asp1348fs",
"transcript": "ENST00000409114.7",
"protein_id": "ENSP00000386643.3",
"transcript_support_level": 1,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1652,
"cds_start": 4043,
"cds_end": null,
"cds_length": 4959,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "ENST00000409057.5",
"protein_id": "ENSP00000386593.1",
"transcript_support_level": 1,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1634,
"cds_start": 3998,
"cds_end": null,
"cds_length": 4905,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 4980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3923_3930delATAGTGAG",
"hgvs_p": "p.Asp1308fs",
"transcript": "ENST00000410007.5",
"protein_id": "ENSP00000386529.1",
"transcript_support_level": 1,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1609,
"cds_start": 3923,
"cds_end": null,
"cds_length": 4830,
"cdna_start": 3933,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3902_3909delATAGTGAG",
"hgvs_p": "p.Asp1301fs",
"transcript": "ENST00000356770.8",
"protein_id": "ENSP00000349213.4",
"transcript_support_level": 1,
"aa_start": 1301,
"aa_end": null,
"aa_length": 1602,
"cds_start": 3902,
"cds_end": null,
"cds_length": 4809,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 7523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4043_4050delATAGTGAG",
"hgvs_p": "p.Asp1348fs",
"transcript": "ENST00000409767.5",
"protein_id": "ENSP00000386601.1",
"transcript_support_level": 1,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1597,
"cds_start": 4043,
"cds_end": null,
"cds_length": 4794,
"cdna_start": 4053,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "ENST00000337303.8",
"protein_id": "ENSP00000338302.4",
"transcript_support_level": 1,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1582,
"cds_start": 3998,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4008,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3923_3930delATAGTGAG",
"hgvs_p": "p.Asp1308fs",
"transcript": "ENST00000394830.7",
"protein_id": "ENSP00000378307.3",
"transcript_support_level": 1,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1582,
"cds_start": 3923,
"cds_end": null,
"cds_length": 4749,
"cdna_start": 4030,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.*1212_*1219delATAGTGAG",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "n.*1212_*1219delATAGTGAG",
"hgvs_p": null,
"transcript": "ENST00000412587.5",
"protein_id": "ENSP00000404579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4043_4050delATAGTGAG",
"hgvs_p": "p.Asp1348fs",
"transcript": "NM_001405601.1",
"protein_id": "NP_001392530.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4043,
"cds_end": null,
"cds_length": 5115,
"cdna_start": 4227,
"cdna_end": null,
"cdna_length": 7988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4043_4050delATAGTGAG",
"hgvs_p": "p.Asp1348fs",
"transcript": "NM_001405607.1",
"protein_id": "NP_001392536.1",
"transcript_support_level": null,
"aa_start": 1348,
"aa_end": null,
"aa_length": 1704,
"cds_start": 4043,
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"cdna_start": 4230,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.4025_4032delATAGTGAG",
"hgvs_p": "p.Asp1342fs",
"transcript": "NM_001405598.1",
"protein_id": "NP_001392527.1",
"transcript_support_level": null,
"aa_start": 1342,
"aa_end": null,
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"cds_start": 4025,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001405570.1",
"protein_id": "NP_001392499.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1691,
"cds_start": 3998,
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"cdna_start": 4182,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001394867.1",
"protein_id": "NP_001381796.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1689,
"cds_start": 3998,
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"cdna_start": 4327,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001394868.1",
"protein_id": "NP_001381797.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1689,
"cds_start": 3998,
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"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 7943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001394869.1",
"protein_id": "NP_001381798.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
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"cds_start": 3998,
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"cdna_start": 4326,
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"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001400470.1",
"protein_id": "NP_001387399.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
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"cdna_start": 4185,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001405581.1",
"protein_id": "NP_001392510.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001405594.1",
"protein_id": "NP_001392523.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1689,
"cds_start": 3998,
"cds_end": null,
"cds_length": 5070,
"cdna_start": 4324,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DSE",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PBRM1",
"gene_hgnc_id": 30064,
"hgvs_c": "c.3998_4005delATAGTGAG",
"hgvs_p": "p.Asp1333fs",
"transcript": "NM_001405603.1",
"protein_id": "NP_001392532.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 1689,
"cds_start": 3998,
"cds_end": null,
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"cdna_start": 4386,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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}
],
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{
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"PP5"
],
"verdict": "Uncertain_significance",
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],
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},
{
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"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "Clear cell carcinoma of kidney",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Clear cell carcinoma of kidney",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}