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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: 22-29673377-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29673377&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29673377,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000338641.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "NM_000268.4",
"protein_id": "NP_000259.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 595,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": "ENST00000338641.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "ENST00000338641.10",
"protein_id": "ENSP00000344666.5",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 595,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": "NM_000268.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "ENST00000403999.7",
"protein_id": "ENSP00000384797.3",
"transcript_support_level": 1,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Arg366Ser",
"transcript": "ENST00000361166.10",
"protein_id": "ENSP00000354529.6",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 550,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Ser",
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 549,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1105C>A",
"hgvs_p": "p.Arg369Ser",
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 548,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.982C>A",
"hgvs_p": "p.Arg328Ser",
"transcript": "ENST00000334961.11",
"protein_id": "ENSP00000335652.7",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 507,
"cds_start": 982,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.982C>A",
"hgvs_p": "p.Arg328Ser",
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 507,
"cds_start": 982,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.448-21375C>A",
"hgvs_p": null,
"transcript": "ENST00000413209.6",
"protein_id": "ENSP00000409921.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": -4,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4733,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.523-1459C>A",
"hgvs_p": null,
"transcript": "ENST00000432151.5",
"protein_id": "ENSP00000395885.1",
"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": 1000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "NM_001407066.1",
"protein_id": "NP_001393995.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "NM_016418.5",
"protein_id": "NP_057502.2",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1674,
"cdna_end": null,
"cdna_length": 6074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "NM_181825.3",
"protein_id": "NP_861546.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
"cds_end": null,
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"cdna_start": 1597,
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"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "NM_181832.3",
"protein_id": "NP_861970.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1231C>A",
"hgvs_p": "p.Arg411Ser",
"transcript": "ENST00000672896.1",
"protein_id": "ENSP00000500117.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 590,
"cds_start": 1231,
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"cdna_start": 1597,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1144C>A",
"hgvs_p": "p.Arg382Ser",
"transcript": "ENST00000403435.5",
"protein_id": "ENSP00000384029.1",
"transcript_support_level": 5,
"aa_start": 382,
"aa_end": null,
"aa_length": 561,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1555,
"cdna_end": null,
"cdna_length": 2568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Arg373Ser",
"transcript": "NM_001407053.1",
"protein_id": "NP_001393982.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 557,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Ser",
"transcript": "NM_001407054.1",
"protein_id": "NP_001393983.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 554,
"cds_start": 1108,
"cds_end": null,
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"cdna_start": 1474,
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"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1105C>A",
"hgvs_p": "p.Arg369Ser",
"transcript": "NM_001407055.1",
"protein_id": "NP_001393984.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 553,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1117C>A",
"hgvs_p": "p.Arg373Ser",
"transcript": "NM_001407056.1",
"protein_id": "NP_001393985.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 552,
"cds_start": 1117,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 6111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1096C>A",
"hgvs_p": "p.Arg366Ser",
"transcript": "NM_001407057.1",
"protein_id": "NP_001393986.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 550,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Ser",
"transcript": "NM_001407058.1",
"protein_id": "NP_001393987.1",
"transcript_support_level": null,
"aa_start": 370,
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