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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: 13-100449297-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100449297&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100449297,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000376285.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Ser",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 728,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Ser",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 631,
"aa_end": null,
"aa_length": 728,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Trp657*",
"transcript": "XM_017020605.2",
"protein_id": "XP_016876094.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 744,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1892G>A",
"hgvs_p": "p.Trp631*",
"transcript": "XM_017020606.2",
"protein_id": "XP_016876095.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 718,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 1920,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1871G>A",
"hgvs_p": "p.Trp624*",
"transcript": "XM_017020607.2",
"protein_id": "XP_016876096.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 711,
"cds_start": 1871,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1805G>A",
"hgvs_p": "p.Trp602*",
"transcript": "XM_047430370.1",
"protein_id": "XP_047286326.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 689,
"cds_start": 1805,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 3680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Trp657*",
"transcript": "XM_017020611.2",
"protein_id": "XP_016876100.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 683,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Trp657*",
"transcript": "XM_017020612.2",
"protein_id": "XP_016876101.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 681,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1970G>A",
"hgvs_p": "p.Trp657*",
"transcript": "XM_017020613.2",
"protein_id": "XP_016876102.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 669,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1322G>A",
"hgvs_p": "p.Trp441*",
"transcript": "XM_047430376.1",
"protein_id": "XP_047286332.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 528,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1587,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Trp342*",
"transcript": "XM_047430378.1",
"protein_id": "XP_047286334.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 429,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1277,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1813G>A",
"hgvs_p": "p.Gly605Ser",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 702,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1813G>A",
"hgvs_p": "p.Gly605Ser",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 605,
"aa_end": null,
"aa_length": 702,
"cds_start": 1813,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Ser",
"transcript": "NM_001178004.2",
"protein_id": "NP_001171475.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 681,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Ser",
"transcript": "ENST00000376279.7",
"protein_id": "ENSP00000365456.3",
"transcript_support_level": 2,
"aa_start": 631,
"aa_end": null,
"aa_length": 681,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 1997,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Gly583Ser",
"transcript": "NM_001352606.2",
"protein_id": "NP_001339535.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 680,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1813G>A",
"hgvs_p": "p.Gly605Ser",
"transcript": "NM_001352607.2",
"protein_id": "NP_001339536.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 655,
"cds_start": 1813,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1669G>A",
"hgvs_p": "p.Gly557Ser",
"transcript": "NM_001352608.2",
"protein_id": "NP_001339537.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 654,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Gly631Ser",
"transcript": "NM_001352609.2",
"protein_id": "NP_001339538.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 640,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Gly517Ser",
"transcript": "ENST00000637657.1",
"protein_id": "ENSP00000489974.1",
"transcript_support_level": 5,
"aa_start": 517,
"aa_end": null,
"aa_length": 614,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1551,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1087G>A",
"hgvs_p": "p.Gly363Ser",
"transcript": "ENST00000636366.1",
"protein_id": "ENSP00000490939.1",
"transcript_support_level": 5,
"aa_start": 363,
"aa_end": null,
"aa_length": 460,
"cds_start": 1087,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Ser",
"transcript": "NM_001352610.2",
"protein_id": "NP_001339539.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 413,
"cds_start": 946,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 2405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Ser",
"transcript": "NM_001352612.2",
"protein_id": "NP_001339541.1",
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}
],
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}