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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: 12-57626858-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57626858&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57626858,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001413967.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ala496Ala",
"transcript": "NM_001478.5",
"protein_id": "NP_001469.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000341156.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001478.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ala496Ala",
"transcript": "ENST00000341156.9",
"protein_id": "ENSP00000341562.4",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001478.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341156.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1656C>T",
"hgvs_p": "p.Ala552Ala",
"transcript": "NM_001413967.1",
"protein_id": "NP_001400896.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 589,
"cds_start": 1656,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413967.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1623C>T",
"hgvs_p": "p.Ala541Ala",
"transcript": "NM_001413968.1",
"protein_id": "NP_001400897.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 578,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413968.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1623C>T",
"hgvs_p": "p.Ala541Ala",
"transcript": "NM_001413969.1",
"protein_id": "NP_001400898.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 578,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413969.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1623C>T",
"hgvs_p": "p.Ala541Ala",
"transcript": "ENST00000882412.1",
"protein_id": "ENSP00000552471.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 578,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882412.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ala507Ala",
"transcript": "NM_001413970.1",
"protein_id": "NP_001400899.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 544,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413970.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ala507Ala",
"transcript": "NM_001413971.1",
"protein_id": "NP_001400900.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 544,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413971.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1521C>T",
"hgvs_p": "p.Ala507Ala",
"transcript": "NM_001413972.1",
"protein_id": "NP_001400901.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 544,
"cds_start": 1521,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413972.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ala496Ala",
"transcript": "NM_001413973.1",
"protein_id": "NP_001400902.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413973.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ala496Ala",
"transcript": "NM_001413974.1",
"protein_id": "NP_001400903.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413974.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Ala496Ala",
"transcript": "ENST00000954202.1",
"protein_id": "ENSP00000624261.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954202.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1389C>T",
"hgvs_p": "p.Ala463Ala",
"transcript": "NM_001413977.1",
"protein_id": "NP_001400906.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 500,
"cds_start": 1389,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413977.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ala441Ala",
"transcript": "NM_001276468.2",
"protein_id": "NP_001263397.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276468.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ala441Ala",
"transcript": "NM_001413978.1",
"protein_id": "NP_001400907.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413978.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ala441Ala",
"transcript": "ENST00000418555.6",
"protein_id": "ENSP00000401601.2",
"transcript_support_level": 2,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418555.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1323C>T",
"hgvs_p": "p.Ala441Ala",
"transcript": "ENST00000954201.1",
"protein_id": "ENSP00000624260.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 478,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954201.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.636C>T",
"hgvs_p": "p.Ala212Ala",
"transcript": "NM_001413981.1",
"protein_id": "NP_001400910.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 249,
"cds_start": 636,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413981.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.534C>T",
"hgvs_p": "p.Ala178Ala",
"transcript": "NM_001413982.1",
"protein_id": "NP_001400911.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 215,
"cds_start": 534,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413982.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Ala167Ala",
"transcript": "NM_001413983.1",
"protein_id": "NP_001400912.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 204,
"cds_start": 501,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413983.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.501C>T",
"hgvs_p": "p.Ala167Ala",
"transcript": "NM_001413984.1",
"protein_id": "NP_001400913.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 204,
"cds_start": 501,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413984.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B4GALNT1",
"gene_hgnc_id": 4117,
"hgvs_c": "c.1854C>T",
"hgvs_p": "p.Ala618Ala",
"transcript": "XM_047428680.1",
"protein_id": "XP_047284636.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 655,
"cds_start": 1854,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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],
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],
"gene_symbol": "B4GALNT1",
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"computational_score_selected": -0.8299999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.83,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.688,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001413967.1",
"gene_symbol": "B4GALNT1",
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"effects": [
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "Spastic paraplegia",
"clinvar_classification": "Likely benign",
"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
}