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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: 8-89937062-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=89937062&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 89937062,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000265433.8",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2198A>T",
"hgvs_p": "p.His733Leu",
"transcript": "NM_002485.5",
"protein_id": "NP_002476.2",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 754,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "ENST00000265433.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2198A>T",
"hgvs_p": "p.His733Leu",
"transcript": "ENST00000265433.8",
"protein_id": "ENSP00000265433.4",
"transcript_support_level": 1,
"aa_start": 733,
"aa_end": null,
"aa_length": 754,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2304,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": "NM_002485.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2249A>T",
"hgvs_p": "p.His750Leu",
"transcript": "ENST00000697293.1",
"protein_id": "ENSP00000513230.1",
"transcript_support_level": null,
"aa_start": 750,
"aa_end": null,
"aa_length": 771,
"cds_start": 2249,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 7028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2198A>T",
"hgvs_p": "p.His733Leu",
"transcript": "ENST00000697292.1",
"protein_id": "ENSP00000513229.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 754,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2198A>T",
"hgvs_p": "p.His733Leu",
"transcript": "ENST00000697310.1",
"protein_id": "ENSP00000513245.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 754,
"cds_start": 2198,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.2129A>T",
"hgvs_p": "p.His710Leu",
"transcript": "ENST00000697308.1",
"protein_id": "ENSP00000513243.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 731,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1973A>T",
"hgvs_p": "p.His658Leu",
"transcript": "ENST00000697307.1",
"protein_id": "ENSP00000513242.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 679,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2083,
"cdna_end": null,
"cdna_length": 5744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "NM_001024688.3",
"protein_id": "NP_001019859.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 4672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "NM_001440379.1",
"protein_id": "NP_001427308.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 4543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "NM_001440380.1",
"protein_id": "NP_001427309.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "ENST00000409330.5",
"protein_id": "ENSP00000386924.1",
"transcript_support_level": 5,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2358,
"cdna_end": null,
"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "ENST00000517337.2",
"protein_id": "ENSP00000429971.2",
"transcript_support_level": 4,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 6895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "ENST00000523444.2",
"protein_id": "ENSP00000428252.2",
"transcript_support_level": 4,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 4724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "ENST00000697298.1",
"protein_id": "ENSP00000513234.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 7186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1952A>T",
"hgvs_p": "p.His651Leu",
"transcript": "ENST00000697299.1",
"protein_id": "ENSP00000513235.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 672,
"cds_start": 1952,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 6819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1886A>T",
"hgvs_p": "p.His629Leu",
"transcript": "ENST00000697304.1",
"protein_id": "ENSP00000513240.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 650,
"cds_start": 1886,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.308A>T",
"hgvs_p": "p.His103Leu",
"transcript": "ENST00000613033.1",
"protein_id": "ENSP00000484487.1",
"transcript_support_level": 3,
"aa_start": 103,
"aa_end": null,
"aa_length": 124,
"cds_start": 308,
"cds_end": null,
"cds_length": 375,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "c.1319A>T",
"hgvs_p": "p.His440Leu",
"transcript": "XM_047421795.1",
"protein_id": "XP_047277751.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 4219,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*2071A>T",
"hgvs_p": null,
"transcript": "ENST00000396252.6",
"protein_id": "ENSP00000379551.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.3618A>T",
"hgvs_p": null,
"transcript": "ENST00000474821.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.3500A>T",
"hgvs_p": null,
"transcript": "ENST00000494804.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 8149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*1809A>T",
"hgvs_p": null,
"transcript": "ENST00000697294.1",
"protein_id": "ENSP00000513231.1",
"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": 6933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBN",
"gene_hgnc_id": 7652,
"hgvs_c": "n.*1507A>T",
"hgvs_p": null,
"transcript": "ENST00000697295.1",
"protein_id": "ENSP00000513232.1",
"transcript_support_level": null,
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"splice_prediction_selected": "Benign",
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{
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"clinvar_review_status": "",
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}
],
"message": null
}