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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: 12-57628188-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57628188&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57628188,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000341156.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "NM_001478.5",
"protein_id": "NP_001469.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 533,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "ENST00000341156.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "ENST00000341156.9",
"protein_id": "ENSP00000341562.4",
"transcript_support_level": 1,
"aa_start": 359,
"aa_end": null,
"aa_length": 533,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": "NM_001478.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Phe404Phe",
"transcript": "NM_001413967.1",
"protein_id": "NP_001400896.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 589,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Phe404Phe",
"transcript": "NM_001413968.1",
"protein_id": "NP_001400897.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 578,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 5503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1212C>T",
"hgvs_p": "p.Phe404Phe",
"transcript": "NM_001413969.1",
"protein_id": "NP_001400898.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 578,
"cds_start": 1212,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1352,
"cdna_end": null,
"cdna_length": 5212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "NM_001413970.1",
"protein_id": "NP_001400899.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 544,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "NM_001413971.1",
"protein_id": "NP_001400900.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 544,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 5442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "NM_001413972.1",
"protein_id": "NP_001400901.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 544,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "NM_001413973.1",
"protein_id": "NP_001400902.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 533,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 5409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1077C>T",
"hgvs_p": "p.Phe359Phe",
"transcript": "NM_001413974.1",
"protein_id": "NP_001400903.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 533,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.978C>T",
"hgvs_p": "p.Phe326Phe",
"transcript": "NM_001413977.1",
"protein_id": "NP_001400906.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 500,
"cds_start": 978,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1409,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Phe304Phe",
"transcript": "NM_001276468.2",
"protein_id": "NP_001263397.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 478,
"cds_start": 912,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Phe304Phe",
"transcript": "NM_001413978.1",
"protein_id": "NP_001400907.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 478,
"cds_start": 912,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 5203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.912C>T",
"hgvs_p": "p.Phe304Phe",
"transcript": "ENST00000418555.6",
"protein_id": "ENSP00000401601.2",
"transcript_support_level": 2,
"aa_start": 304,
"aa_end": null,
"aa_length": 478,
"cds_start": 912,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.225C>T",
"hgvs_p": "p.Phe75Phe",
"transcript": "NM_001413981.1",
"protein_id": "NP_001400910.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 249,
"cds_start": 225,
"cds_end": null,
"cds_length": 750,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Phe30Phe",
"transcript": "NM_001413982.1",
"protein_id": "NP_001400911.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 215,
"cds_start": 90,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Phe30Phe",
"transcript": "NM_001413983.1",
"protein_id": "NP_001400912.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 204,
"cds_start": 90,
"cds_end": null,
"cds_length": 615,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 5325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Phe30Phe",
"transcript": "NM_001413984.1",
"protein_id": "NP_001400913.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 204,
"cds_start": 90,
"cds_end": null,
"cds_length": 615,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 5284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.90C>T",
"hgvs_p": "p.Phe30Phe",
"transcript": "ENST00000547741.1",
"protein_id": "ENSP00000448577.1",
"transcript_support_level": 4,
"aa_start": 30,
"aa_end": null,
"aa_length": 149,
"cds_start": 90,
"cds_end": null,
"cds_length": 451,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Phe481Phe",
"transcript": "XM_047428680.1",
"protein_id": "XP_047284636.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 655,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 5438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1326C>T",
"hgvs_p": "p.Phe442Phe",
"transcript": "XM_011538147.4",
"protein_id": "XP_011536449.2",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 627,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 5355,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Phe436Phe",
"transcript": "XM_005268773.6",
"protein_id": "XP_005268830.2",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 621,
"cds_start": 1308,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1441,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP7"
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"verdict": "Likely_benign",
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Spastic paraplegia",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}