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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: 22-29694788-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=29694788&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 29694788,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000338641.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1774T>C",
"hgvs_p": "p.Phe592Leu",
"transcript": "NM_000268.4",
"protein_id": "NP_000259.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 595,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": "ENST00000338641.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1774T>C",
"hgvs_p": "p.Phe592Leu",
"transcript": "ENST00000338641.10",
"protein_id": "ENSP00000344666.5",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 595,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 2140,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": "NM_000268.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1639T>C",
"hgvs_p": "p.Phe547Leu",
"transcript": "ENST00000361166.10",
"protein_id": "ENSP00000354529.6",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.484T>C",
"hgvs_p": "p.Phe162Leu",
"transcript": "ENST00000413209.6",
"protein_id": "ENSP00000409921.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 165,
"cds_start": 484,
"cds_end": null,
"cds_length": 498,
"cdna_start": 927,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*130T>C",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*61T>C",
"hgvs_p": null,
"transcript": "ENST00000397789.3",
"protein_id": "ENSP00000380891.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*46T>C",
"hgvs_p": null,
"transcript": "ENST00000361452.8",
"protein_id": "ENSP00000354897.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": -4,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*46T>C",
"hgvs_p": null,
"transcript": "ENST00000361676.8",
"protein_id": "ENSP00000355183.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": -4,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.*46T>C",
"hgvs_p": null,
"transcript": "ENST00000353887.8",
"protein_id": "ENSP00000340626.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 507,
"cds_start": -4,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"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": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*130T>C",
"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": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1660T>C",
"hgvs_p": "p.Phe554Leu",
"transcript": "NM_001407053.1",
"protein_id": "NP_001393982.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 557,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1651T>C",
"hgvs_p": "p.Phe551Leu",
"transcript": "NM_001407054.1",
"protein_id": "NP_001393983.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 554,
"cds_start": 1651,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1648T>C",
"hgvs_p": "p.Phe550Leu",
"transcript": "NM_001407055.1",
"protein_id": "NP_001393984.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 553,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2014,
"cdna_end": null,
"cdna_length": 5824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1639T>C",
"hgvs_p": "p.Phe547Leu",
"transcript": "NM_001407057.1",
"protein_id": "NP_001393986.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 550,
"cds_start": 1639,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 5815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1516T>C",
"hgvs_p": "p.Phe506Leu",
"transcript": "NM_001407062.1",
"protein_id": "NP_001393991.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 509,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.484T>C",
"hgvs_p": "p.Phe162Leu",
"transcript": "NM_181833.3",
"protein_id": "NP_861971.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 165,
"cds_start": 484,
"cds_end": null,
"cds_length": 498,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1660T>C",
"hgvs_p": "p.Phe554Leu",
"transcript": "XM_017028809.3",
"protein_id": "XP_016884298.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 557,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1611T>C",
"hgvs_p": "p.Ser537Ser",
"transcript": "NM_001407060.1",
"protein_id": "NP_001393989.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 543,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 5787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "c.1362T>C",
"hgvs_p": "p.Ser454Ser",
"transcript": "NM_001407064.1",
"protein_id": "NP_001393993.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 460,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 5538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*46T>C",
"hgvs_p": null,
"transcript": "ENST00000672461.1",
"protein_id": "ENSP00000500919.1",
"transcript_support_level": null,
"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": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*1656T>C",
"hgvs_p": null,
"transcript": "ENST00000672805.1",
"protein_id": "ENSP00000500295.1",
"transcript_support_level": null,
"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": 2478,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.*1268T>C",
"hgvs_p": null,
"transcript": "ENST00000673312.2",
"protein_id": "ENSP00000500186.2",
"transcript_support_level": null,
"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": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF2",
"gene_hgnc_id": 7773,
"hgvs_c": "n.1159T>C",
"hgvs_p": null,
"transcript": "NR_176267.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}