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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: 15-90794344-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=90794344&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 90794344,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000057.4",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "NM_000057.4",
"protein_id": "NP_000048.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "ENST00000355112.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000057.4"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000355112.8",
"protein_id": "ENSP00000347232.3",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": "NM_000057.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355112.8"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000560509.5",
"protein_id": "ENSP00000454158.1",
"transcript_support_level": 1,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560509.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*2121G>A",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "n.*2121G>A",
"hgvs_p": null,
"transcript": "ENST00000559724.5",
"protein_id": "ENSP00000453359.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4510,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000559724.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3290G>A",
"hgvs_p": "p.Cys1097Tyr",
"transcript": "ENST00000936452.1",
"protein_id": "ENSP00000606511.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3290,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 3359,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936452.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3251G>A",
"hgvs_p": "p.Cys1084Tyr",
"transcript": "ENST00000936450.1",
"protein_id": "ENSP00000606509.1",
"transcript_support_level": null,
"aa_start": 1084,
"aa_end": null,
"aa_length": 1435,
"cds_start": 3251,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 3347,
"cdna_end": null,
"cdna_length": 4584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936450.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "NM_001287246.2",
"protein_id": "NP_001274175.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3406,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287246.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000680772.1",
"protein_id": "ENSP00000506117.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680772.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000936448.1",
"protein_id": "ENSP00000606507.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936448.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000936451.1",
"protein_id": "ENSP00000606510.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3448,
"cdna_end": null,
"cdna_length": 4688,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936451.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000936455.1",
"protein_id": "ENSP00000606514.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1417,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4254,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936455.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3194G>A",
"hgvs_p": "p.Cys1065Tyr",
"transcript": "ENST00000936446.1",
"protein_id": "ENSP00000606505.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3194,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3291,
"cdna_end": null,
"cdna_length": 5222,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936446.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000648453.1",
"protein_id": "ENSP00000497646.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4161,
"cdna_start": 3279,
"cdna_end": null,
"cdna_length": 4522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648453.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3098G>A",
"hgvs_p": "p.Cys1033Tyr",
"transcript": "ENST00000936454.1",
"protein_id": "ENSP00000606513.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1384,
"cds_start": 3098,
"cds_end": null,
"cds_length": 4155,
"cdna_start": 3193,
"cdna_end": null,
"cdna_length": 4334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936454.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3083G>A",
"hgvs_p": "p.Cys1028Tyr",
"transcript": "ENST00000891949.1",
"protein_id": "ENSP00000562008.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3083,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 4328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891949.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "ENST00000681142.1",
"protein_id": "ENSP00000506682.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3197,
"cds_end": null,
"cds_length": 4119,
"cdna_start": 3279,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681142.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.3197G>A",
"hgvs_p": "p.Cys1066Tyr",
"transcript": "NM_001287247.2",
"protein_id": "NP_001274176.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287247.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.2609G>A",
"hgvs_p": "p.Cys870Tyr",
"transcript": "ENST00000936445.1",
"protein_id": "ENSP00000606504.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 1221,
"cds_start": 2609,
"cds_end": null,
"cds_length": 3666,
"cdna_start": 2705,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936445.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.2540G>A",
"hgvs_p": "p.Cys847Tyr",
"transcript": "ENST00000936447.1",
"protein_id": "ENSP00000606506.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2540,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936447.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.2072G>A",
"hgvs_p": "p.Cys691Tyr",
"transcript": "NM_001287248.2",
"protein_id": "NP_001274177.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2072,
"cds_end": null,
"cds_length": 3129,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287248.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLM",
"gene_hgnc_id": 1058,
"hgvs_c": "c.1622G>A",
"hgvs_p": "p.Cys541Tyr",
"transcript": "ENST00000936453.1",
"protein_id": "ENSP00000606512.1",
"transcript_support_level": null,
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}
],
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}