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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: 11-78101043-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78101043&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78101043,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_001425224.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1501delG",
"hgvs_p": "p.Val501fs",
"transcript": "NM_024079.5",
"protein_id": "NP_076984.2",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 526,
"cds_start": 1501,
"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": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1501delG",
"hgvs_p": "p.Val501fs",
"transcript": "ENST00000299626.10",
"protein_id": "ENSP00000299626.5",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 526,
"cds_start": 1501,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1594delG",
"hgvs_p": "p.Val532fs",
"transcript": "NM_001425224.1",
"protein_id": "NP_001412153.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 557,
"cds_start": 1594,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1549delG",
"hgvs_p": "p.Val517fs",
"transcript": "NM_001425225.1",
"protein_id": "NP_001412154.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 542,
"cds_start": 1549,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1549delG",
"hgvs_p": "p.Val517fs",
"transcript": "ENST00000532440.6",
"protein_id": "ENSP00000433429.2",
"transcript_support_level": 3,
"aa_start": 517,
"aa_end": null,
"aa_length": 542,
"cds_start": 1549,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1525delG",
"hgvs_p": "p.Val509fs",
"transcript": "NM_001425222.1",
"protein_id": "NP_001412151.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 534,
"cds_start": 1525,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1522delG",
"hgvs_p": "p.Val508fs",
"transcript": "ENST00000853774.1",
"protein_id": "ENSP00000523833.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 533,
"cds_start": 1522,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1504delG",
"hgvs_p": "p.Val502fs",
"transcript": "NM_001425219.1",
"protein_id": "NP_001412148.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 527,
"cds_start": 1504,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1504delG",
"hgvs_p": "p.Val502fs",
"transcript": "ENST00000680256.1",
"protein_id": "ENSP00000505074.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 527,
"cds_start": 1504,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1495delG",
"hgvs_p": "p.Val499fs",
"transcript": "NM_001425223.1",
"protein_id": "NP_001412152.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 524,
"cds_start": 1495,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1486delG",
"hgvs_p": "p.Val496fs",
"transcript": "NM_001425220.1",
"protein_id": "NP_001412149.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1486delG",
"hgvs_p": "p.Val496fs",
"transcript": "ENST00000853769.1",
"protein_id": "ENSP00000523828.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 521,
"cds_start": 1486,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1426delG",
"hgvs_p": "p.Val476fs",
"transcript": "NM_001425221.1",
"protein_id": "NP_001412150.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 501,
"cds_start": 1426,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1426delG",
"hgvs_p": "p.Val476fs",
"transcript": "ENST00000853773.1",
"protein_id": "ENSP00000523832.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 501,
"cds_start": 1426,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1405delG",
"hgvs_p": "p.Val469fs",
"transcript": "ENST00000526849.6",
"protein_id": "ENSP00000434388.2",
"transcript_support_level": 2,
"aa_start": 469,
"aa_end": null,
"aa_length": 494,
"cds_start": 1405,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1357delG",
"hgvs_p": "p.Val453fs",
"transcript": "ENST00000853770.1",
"protein_id": "ENSP00000523829.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 478,
"cds_start": 1357,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1354delG",
"hgvs_p": "p.Val452fs",
"transcript": "ENST00000965607.1",
"protein_id": "ENSP00000635666.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 477,
"cds_start": 1354,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1351delG",
"hgvs_p": "p.Val451fs",
"transcript": "ENST00000853772.1",
"protein_id": "ENSP00000523831.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 476,
"cds_start": 1351,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1348delG",
"hgvs_p": "p.Val450fs",
"transcript": "NM_001425226.1",
"protein_id": "NP_001412155.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 475,
"cds_start": 1348,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1330delG",
"hgvs_p": "p.Val444fs",
"transcript": "NM_001425227.1",
"protein_id": "NP_001412156.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 469,
"cds_start": 1330,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1330delG",
"hgvs_p": "p.Val444fs",
"transcript": "ENST00000681699.1",
"protein_id": "ENSP00000504969.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 469,
"cds_start": 1330,
"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": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_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.1330delG",
"hgvs_p": "p.Val444fs",
"transcript": "ENST00000853767.1",
"protein_id": "ENSP00000523826.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 469,
"cds_start": 1330,
"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": "ENST00000853767.1"
},
{
"aa_ref": "V",
"aa_alt": 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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"transcript": "ENST00000681957.1",
"protein_id": "ENSP00000506056.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681957.1"
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],
"gene_symbol": "ALG8",
"gene_hgnc_id": 23161,
"dbsnp": null,
"frequency_reference_population": 6.8404694e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84047e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.884,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001425224.1",
"gene_symbol": "ALG8",
"hgnc_id": 23161,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1594delG",
"hgvs_p": "p.Val532fs"
}
],
"clinvar_disease": "Autosomal dominant polycystic liver disease",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autosomal dominant polycystic liver disease",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}