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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-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100449297&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100449297,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000282.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly631Arg",
"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": "protein_coding",
"feature": "NM_000282.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly631Arg",
"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": "protein_coding",
"feature": "ENST00000376285.6"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2014G>C",
"hgvs_p": "p.Gly672Arg",
"transcript": "ENST00000881637.1",
"protein_id": "ENSP00000551696.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 769,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2039,
"cdna_end": null,
"cdna_length": 2604,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881637.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1996G>C",
"hgvs_p": "p.Gly666Arg",
"transcript": "ENST00000881640.1",
"protein_id": "ENSP00000551699.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 763,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881640.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1891G>C",
"hgvs_p": "p.Gly631Arg",
"transcript": "ENST00000956821.1",
"protein_id": "ENSP00000626880.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 762,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2289,
"cdna_start": 1914,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956821.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1981G>C",
"hgvs_p": "p.Gly661Arg",
"transcript": "ENST00000881647.1",
"protein_id": "ENSP00000551706.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 758,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881647.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1966G>C",
"hgvs_p": "p.Gly656Arg",
"transcript": "ENST00000881631.1",
"protein_id": "ENSP00000551690.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 753,
"cds_start": 1966,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881631.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.2014G>C",
"hgvs_p": "p.Gly672Arg",
"transcript": "ENST00000881644.1",
"protein_id": "ENSP00000551703.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 738,
"cds_start": 2014,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881644.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly631Arg",
"transcript": "ENST00000940854.1",
"protein_id": "ENSP00000610913.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 726,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2453,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940854.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1879G>C",
"hgvs_p": "p.Gly627Arg",
"transcript": "ENST00000881635.1",
"protein_id": "ENSP00000551694.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 724,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 2469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881635.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1837G>C",
"hgvs_p": "p.Gly613Arg",
"transcript": "ENST00000956823.1",
"protein_id": "ENSP00000626882.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 710,
"cds_start": 1837,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956823.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1822G>C",
"hgvs_p": "p.Gly608Arg",
"transcript": "ENST00000956827.1",
"protein_id": "ENSP00000626886.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 705,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956827.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly605Arg",
"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": "protein_coding",
"feature": "NM_001127692.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly605Arg",
"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": "protein_coding",
"feature": "ENST00000376286.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly631Arg",
"transcript": "ENST00000881634.1",
"protein_id": "ENSP00000551693.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 697,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881634.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1792G>C",
"hgvs_p": "p.Gly598Arg",
"transcript": "ENST00000881627.1",
"protein_id": "ENSP00000551686.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 695,
"cds_start": 1792,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881627.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1780G>C",
"hgvs_p": "p.Gly594Arg",
"transcript": "ENST00000881645.1",
"protein_id": "ENSP00000551704.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 691,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881645.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1774G>C",
"hgvs_p": "p.Gly592Arg",
"transcript": "ENST00000881638.1",
"protein_id": "ENSP00000551697.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 689,
"cds_start": 1774,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1802,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881638.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1672G>C",
"hgvs_p": "p.Gly558Arg",
"transcript": "ENST00000956825.1",
"protein_id": "ENSP00000626884.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 689,
"cds_start": 1672,
"cds_end": null,
"cds_length": 2070,
"cdna_start": 1677,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956825.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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.1759G>C",
"hgvs_p": "p.Gly587Arg",
"transcript": "ENST00000881626.1",
"protein_id": "ENSP00000551685.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 684,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881626.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly631Arg",
"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": "protein_coding",
"feature": "NM_001178004.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"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>C",
"hgvs_p": "p.Gly631Arg",
"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,
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}
],
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}