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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: 13-100112045-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100112045&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100112045,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000376285.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 728,
"cds_start": 284,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 728,
"cds_start": 284,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "NM_001352605.2",
"protein_id": "NP_001339534.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 710,
"cds_start": 284,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 702,
"cds_start": 206,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 69,
"aa_end": null,
"aa_length": 702,
"cds_start": 206,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "NM_001178004.2",
"protein_id": "NP_001171475.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 681,
"cds_start": 284,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "ENST00000376279.7",
"protein_id": "ENSP00000365456.3",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 681,
"cds_start": 284,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 2418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "NM_001352606.2",
"protein_id": "NP_001339535.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 680,
"cds_start": 284,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "NM_001352607.2",
"protein_id": "NP_001339536.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 655,
"cds_start": 206,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "NM_001352608.2",
"protein_id": "NP_001339537.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 654,
"cds_start": 206,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "NM_001352609.2",
"protein_id": "NP_001339538.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 640,
"cds_start": 284,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Asp54Gly",
"transcript": "ENST00000637657.1",
"protein_id": "ENSP00000489974.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 614,
"cds_start": 161,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Asp54Gly",
"transcript": "ENST00000636366.1",
"protein_id": "ENSP00000490939.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 460,
"cds_start": 161,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 163,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.161A>G",
"hgvs_p": "p.Asp54Gly",
"transcript": "ENST00000637358.1",
"protein_id": "ENSP00000489804.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
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"cds_start": 161,
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"cdna_start": 163,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "XM_017020605.2",
"protein_id": "XP_016876094.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 744,
"cds_start": 284,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 3339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "XM_017020606.2",
"protein_id": "XP_016876095.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 718,
"cds_start": 206,
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"cdna_start": 234,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Asp62Gly",
"transcript": "XM_017020607.2",
"protein_id": "XP_016876096.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 711,
"cds_start": 185,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 4379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "XM_011521093.2",
"protein_id": "XP_011519395.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 699,
"cds_start": 284,
"cds_end": null,
"cds_length": 2100,
"cdna_start": 312,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Asp62Gly",
"transcript": "XM_017020609.2",
"protein_id": "XP_016876098.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 695,
"cds_start": 185,
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"cdna_start": 1352,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "XM_047430371.1",
"protein_id": "XP_047286327.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 684,
"cds_start": 206,
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"cdna_start": 234,
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"cdna_length": 2352,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "XM_017020611.2",
"protein_id": "XP_016876100.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "XM_017020612.2",
"protein_id": "XP_016876101.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 681,
"cds_start": 284,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 2638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.206A>G",
"hgvs_p": "p.Asp69Gly",
"transcript": "XM_047430372.1",
"protein_id": "XP_047286328.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 673,
"cds_start": 206,
"cds_end": null,
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