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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: 17-8377675-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8377675&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8377675,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000987.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "NM_000987.5",
"protein_id": "NP_000978.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 528,
"mane_select": "ENST00000648839.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000987.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000648839.1",
"protein_id": "ENSP00000498177.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 528,
"mane_select": "NM_000987.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000263809",
"gene_hgnc_id": null,
"hgvs_c": "n.310-1571A>G",
"hgvs_p": null,
"transcript": "ENST00000582471.1",
"protein_id": "ENSP00000463847.1",
"transcript_support_level": 5,
"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": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000582471.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.310A>G",
"hgvs_p": "p.Lys104Glu",
"transcript": "ENST00000582485.5",
"protein_id": "ENSP00000464143.1",
"transcript_support_level": 3,
"aa_start": 104,
"aa_end": null,
"aa_length": 134,
"cds_start": 310,
"cds_end": null,
"cds_length": 405,
"cdna_start": 312,
"cdna_end": null,
"cdna_length": 443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582485.5"
},
{
"aa_ref": "*",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_retained_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.191A>G",
"hgvs_p": "p.Ter64Ter",
"transcript": "ENST00000584441.5",
"protein_id": "ENSP00000462249.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 63,
"cds_start": 191,
"cds_end": null,
"cds_length": 192,
"cdna_start": 191,
"cdna_end": null,
"cdna_length": 328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584441.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.351A>G",
"hgvs_p": "p.Leu117Leu",
"transcript": "ENST00000913691.1",
"protein_id": "ENSP00000583750.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 153,
"cds_start": 351,
"cds_end": null,
"cds_length": 462,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913691.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.351A>G",
"hgvs_p": "p.Leu117Leu",
"transcript": "ENST00000913696.1",
"protein_id": "ENSP00000583755.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 153,
"cds_start": 351,
"cds_end": null,
"cds_length": 462,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 545,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913696.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.333A>G",
"hgvs_p": "p.Leu111Leu",
"transcript": "ENST00000913688.1",
"protein_id": "ENSP00000583747.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 147,
"cds_start": 333,
"cds_end": null,
"cds_length": 444,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913688.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "NM_001315530.2",
"protein_id": "NP_001302459.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315530.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "NM_001315531.2",
"protein_id": "NP_001302460.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315531.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000582556.5",
"protein_id": "ENSP00000463470.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582556.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000583011.6",
"protein_id": "ENSP00000462322.1",
"transcript_support_level": 3,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583011.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000584164.6",
"protein_id": "ENSP00000463784.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 870,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000584164.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000851389.1",
"protein_id": "ENSP00000521448.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851389.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000851390.1",
"protein_id": "ENSP00000521449.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851390.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000851392.1",
"protein_id": "ENSP00000521451.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 651,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851392.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000851394.1",
"protein_id": "ENSP00000521453.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851394.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000913690.1",
"protein_id": "ENSP00000583749.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 773,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913690.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000913692.1",
"protein_id": "ENSP00000583751.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913692.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000913697.1",
"protein_id": "ENSP00000583756.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913697.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000913699.1",
"protein_id": "ENSP00000583758.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913699.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL26",
"gene_hgnc_id": 10327,
"hgvs_c": "c.327A>G",
"hgvs_p": "p.Leu109Leu",
"transcript": "ENST00000913702.1",
"protein_id": "ENSP00000583761.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 145,
"cds_start": 327,
"cds_end": null,
"cds_length": 438,
"cdna_start": 861,
"cdna_end": null,
"cdna_length": 1016,
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{
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{
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],
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"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Diamond-Blackfan anemia|Diamond-Blackfan anemia 11",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}