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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: 11-78101005-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78101005&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78101005,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001425224.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"transcript": "NM_024079.5",
"protein_id": "NP_076984.2",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 526,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000299626.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024079.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1540G>A",
"hgvs_p": "p.Val514Ile",
"transcript": "ENST00000299626.10",
"protein_id": "ENSP00000299626.5",
"transcript_support_level": 1,
"aa_start": 514,
"aa_end": null,
"aa_length": 526,
"cds_start": 1540,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024079.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000299626.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile",
"transcript": "NM_001425224.1",
"protein_id": "NP_001412153.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 557,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425224.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Val530Ile",
"transcript": "NM_001425225.1",
"protein_id": "NP_001412154.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 542,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425225.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1588G>A",
"hgvs_p": "p.Val530Ile",
"transcript": "ENST00000532440.6",
"protein_id": "ENSP00000433429.2",
"transcript_support_level": 3,
"aa_start": 530,
"aa_end": null,
"aa_length": 542,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532440.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1564G>A",
"hgvs_p": "p.Val522Ile",
"transcript": "NM_001425222.1",
"protein_id": "NP_001412151.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 534,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425222.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1561G>A",
"hgvs_p": "p.Val521Ile",
"transcript": "ENST00000853774.1",
"protein_id": "ENSP00000523833.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 533,
"cds_start": 1561,
"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": "ENST00000853774.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "NM_001425219.1",
"protein_id": "NP_001412148.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 527,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425219.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1543G>A",
"hgvs_p": "p.Val515Ile",
"transcript": "ENST00000680256.1",
"protein_id": "ENSP00000505074.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 527,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680256.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1534G>A",
"hgvs_p": "p.Val512Ile",
"transcript": "NM_001425223.1",
"protein_id": "NP_001412152.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 524,
"cds_start": 1534,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425223.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Ile",
"transcript": "NM_001425220.1",
"protein_id": "NP_001412149.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 521,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425220.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Val509Ile",
"transcript": "ENST00000853769.1",
"protein_id": "ENSP00000523828.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 521,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853769.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "NM_001425221.1",
"protein_id": "NP_001412150.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 501,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425221.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1465G>A",
"hgvs_p": "p.Val489Ile",
"transcript": "ENST00000853773.1",
"protein_id": "ENSP00000523832.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 501,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853773.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1444G>A",
"hgvs_p": "p.Val482Ile",
"transcript": "ENST00000526849.6",
"protein_id": "ENSP00000434388.2",
"transcript_support_level": 2,
"aa_start": 482,
"aa_end": null,
"aa_length": 494,
"cds_start": 1444,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526849.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1396G>A",
"hgvs_p": "p.Val466Ile",
"transcript": "ENST00000853770.1",
"protein_id": "ENSP00000523829.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 478,
"cds_start": 1396,
"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": "ENST00000853770.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1393G>A",
"hgvs_p": "p.Val465Ile",
"transcript": "ENST00000965607.1",
"protein_id": "ENSP00000635666.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 477,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965607.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Val464Ile",
"transcript": "ENST00000853772.1",
"protein_id": "ENSP00000523831.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 476,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853772.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Val463Ile",
"transcript": "NM_001425226.1",
"protein_id": "NP_001412155.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 475,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425226.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Val457Ile",
"transcript": "NM_001425227.1",
"protein_id": "NP_001412156.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425227.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Val457Ile",
"transcript": "ENST00000681699.1",
"protein_id": "ENSP00000504969.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681699.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Val457Ile",
"transcript": "ENST00000853767.1",
"protein_id": "ENSP00000523826.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 469,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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],
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{
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{
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681957.1"
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],
"gene_symbol": "ALG8",
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"dbsnp": null,
"frequency_reference_population": 0.0000013680976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013681,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12587502598762512,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.057,
"revel_prediction": "Benign",
"alphamissense_score": 0.0794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.316,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001425224.1",
"gene_symbol": "ALG8",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1633G>A",
"hgvs_p": "p.Val545Ile"
}
],
"clinvar_disease": "ALG8 congenital disorder of glycosylation",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "ALG8 congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}