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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: 2-1516904-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1516904&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 1516904,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000329066.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2540T>C",
"hgvs_p": "p.Val847Ala",
"transcript": "NM_001206744.2",
"protein_id": "NP_001193673.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 933,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "ENST00000329066.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2540T>C",
"hgvs_p": "p.Val847Ala",
"transcript": "ENST00000329066.9",
"protein_id": "ENSP00000329869.4",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 933,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2624,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "NM_001206744.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2540T>C",
"hgvs_p": "p.Val847Ala",
"transcript": "ENST00000345913.8",
"protein_id": "ENSP00000318820.7",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 933,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2369T>C",
"hgvs_p": "p.Val790Ala",
"transcript": "ENST00000382201.7",
"protein_id": "ENSP00000371636.3",
"transcript_support_level": 1,
"aa_start": 790,
"aa_end": null,
"aa_length": 876,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2021T>C",
"hgvs_p": "p.Val674Ala",
"transcript": "ENST00000382198.5",
"protein_id": "ENSP00000371633.1",
"transcript_support_level": 1,
"aa_start": 674,
"aa_end": null,
"aa_length": 760,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2283,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "n.831T>C",
"hgvs_p": null,
"transcript": "ENST00000497517.6",
"protein_id": null,
"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": 1311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2540T>C",
"hgvs_p": "p.Val847Ala",
"transcript": "NM_000547.6",
"protein_id": "NP_000538.3",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 933,
"cds_start": 2540,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 4090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "NM_175721.3",
"protein_id": "NP_783652.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 889,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "ENST00000346956.7",
"protein_id": "ENSP00000263886.6",
"transcript_support_level": 5,
"aa_start": 803,
"aa_end": null,
"aa_length": 889,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2369T>C",
"hgvs_p": "p.Val790Ala",
"transcript": "NM_001206745.2",
"protein_id": "NP_001193674.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 876,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 3914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2369T>C",
"hgvs_p": "p.Val790Ala",
"transcript": "NM_175719.4",
"protein_id": "NP_783650.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 876,
"cds_start": 2369,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2195T>C",
"hgvs_p": "p.Val732Ala",
"transcript": "ENST00000422464.5",
"protein_id": "ENSP00000405788.1",
"transcript_support_level": 2,
"aa_start": 732,
"aa_end": null,
"aa_length": 864,
"cds_start": 2195,
"cds_end": null,
"cds_length": 2595,
"cdna_start": 2195,
"cdna_end": null,
"cdna_length": 5391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2021T>C",
"hgvs_p": "p.Val674Ala",
"transcript": "NM_175722.3",
"protein_id": "NP_783653.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 760,
"cds_start": 2021,
"cds_end": null,
"cds_length": 2283,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.962T>C",
"hgvs_p": "p.Val321Ala",
"transcript": "ENST00000446278.5",
"protein_id": "ENSP00000400033.1",
"transcript_support_level": 5,
"aa_start": 321,
"aa_end": null,
"aa_length": 403,
"cds_start": 962,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.830T>C",
"hgvs_p": "p.Val277Ala",
"transcript": "ENST00000469607.3",
"protein_id": "ENSP00000419461.1",
"transcript_support_level": 5,
"aa_start": 277,
"aa_end": null,
"aa_length": 363,
"cds_start": 830,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2444T>C",
"hgvs_p": "p.Val815Ala",
"transcript": "XM_024453085.2",
"protein_id": "XP_024308853.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 947,
"cds_start": 2444,
"cds_end": null,
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"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 3983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2576T>C",
"hgvs_p": "p.Val859Ala",
"transcript": "XM_011510380.4",
"protein_id": "XP_011508682.2",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 941,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2802,
"cdna_end": null,
"cdna_length": 4133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "XM_024453087.2",
"protein_id": "XP_024308855.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 935,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 2492,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "XM_024453088.2",
"protein_id": "XP_024308856.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 935,
"cds_start": 2408,
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"cdna_start": 2497,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "XM_024453089.2",
"protein_id": "XP_024308857.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 935,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3244,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "XM_047445652.1",
"protein_id": "XP_047301608.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 935,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 5468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
"hgvs_p": "p.Val803Ala",
"transcript": "XM_047445653.1",
"protein_id": "XP_047301609.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 935,
"cds_start": 2408,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 3340,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPO",
"gene_hgnc_id": 12015,
"hgvs_c": "c.2408T>C",
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}
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}