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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: 8-100705029-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=100705029&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 100705029,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002568.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "NM_002568.4",
"protein_id": "NP_002559.2",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318607.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002568.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000318607.10",
"protein_id": "ENSP00000313007.5",
"transcript_support_level": 1,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002568.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318607.10"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1571C>T",
"hgvs_p": "p.Ala524Val",
"transcript": "ENST00000610907.2",
"protein_id": "ENSP00000478108.2",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 588,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610907.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1808C>T",
"hgvs_p": "p.Ala603Val",
"transcript": "ENST00000900770.1",
"protein_id": "ENSP00000570829.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 667,
"cds_start": 1808,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900770.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "NM_001438282.1",
"protein_id": "NP_001425211.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438282.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000520142.2",
"protein_id": "ENSP00000430012.2",
"transcript_support_level": 3,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520142.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000520804.2",
"protein_id": "ENSP00000428749.2",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520804.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000521865.6",
"protein_id": "ENSP00000429119.2",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521865.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000522658.6",
"protein_id": "ENSP00000428840.2",
"transcript_support_level": 2,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522658.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000522720.2",
"protein_id": "ENSP00000429790.2",
"transcript_support_level": 4,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522720.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000523555.6",
"protein_id": "ENSP00000429892.2",
"transcript_support_level": 3,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523555.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000900764.1",
"protein_id": "ENSP00000570823.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900764.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000900773.1",
"protein_id": "ENSP00000570832.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900773.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000938879.1",
"protein_id": "ENSP00000608938.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938879.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000938880.1",
"protein_id": "ENSP00000608939.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938880.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000951436.1",
"protein_id": "ENSP00000621495.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951436.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1715C>T",
"hgvs_p": "p.Ala572Val",
"transcript": "ENST00000951437.1",
"protein_id": "ENSP00000621496.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 636,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951437.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1709C>T",
"hgvs_p": "p.Ala570Val",
"transcript": "ENST00000900766.1",
"protein_id": "ENSP00000570825.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 634,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900766.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ala569Val",
"transcript": "ENST00000677140.1",
"protein_id": "ENSP00000503044.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 633,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677140.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1706C>T",
"hgvs_p": "p.Ala569Val",
"transcript": "ENST00000938882.1",
"protein_id": "ENSP00000608941.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 633,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938882.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Ala561Val",
"transcript": "ENST00000900771.1",
"protein_id": "ENSP00000570830.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 625,
"cds_start": 1682,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900771.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PABPC1",
"gene_hgnc_id": 8554,
"hgvs_c": "c.1634C>T",
"hgvs_p": "p.Ala545Val",
"transcript": "ENST00000900765.1",
"protein_id": "ENSP00000570824.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 609,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
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{
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{
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{
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],
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],
"gene_symbol": "PABPC1",
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3173179626464844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.157,
"revel_prediction": "Benign",
"alphamissense_score": 0.2286,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.146,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002568.4",
"gene_symbol": "PABPC1",
"hgnc_id": 8554,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ala572Val"
},
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000849485.1",
"gene_symbol": "ENSG00000310385",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}