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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: 1-23310712-A-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=23310712&ref=A&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 23310712,
"ref": "A",
"alt": "AC",
"effect": "frameshift_variant",
"transcript": "NM_001102398.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "NM_005826.5",
"protein_id": "NP_005817.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302271.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005826.5"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "ENST00000302271.11",
"protein_id": "ENSP00000304405.6",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005826.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302271.11"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1652dupG",
"hgvs_p": "p.Pro552fs",
"transcript": "ENST00000374616.7",
"protein_id": "ENSP00000363745.3",
"transcript_support_level": 1,
"aa_start": 551,
"aa_end": null,
"aa_length": 636,
"cds_start": 1652,
"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": "ENST00000374616.7"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1349dupG",
"hgvs_p": "p.Pro451fs",
"transcript": "ENST00000478691.5",
"protein_id": "ENSP00000474437.1",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 535,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478691.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "n.708dupG",
"hgvs_p": null,
"transcript": "ENST00000476660.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000476660.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1658dupG",
"hgvs_p": "p.Pro554fs",
"transcript": "ENST00000934775.1",
"protein_id": "ENSP00000604834.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 638,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934775.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1658dupG",
"hgvs_p": "p.Pro554fs",
"transcript": "ENST00000934777.1",
"protein_id": "ENSP00000604836.1",
"transcript_support_level": null,
"aa_start": 553,
"aa_end": null,
"aa_length": 638,
"cds_start": 1658,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934777.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1652dupG",
"hgvs_p": "p.Pro552fs",
"transcript": "NM_001102398.3",
"protein_id": "NP_001095868.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 636,
"cds_start": 1652,
"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_001102398.3"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "NM_001438564.1",
"protein_id": "NP_001425493.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"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": "NM_001438564.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "ENST00000374612.5",
"protein_id": "ENSP00000363741.1",
"transcript_support_level": 5,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"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": "ENST00000374612.5"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "ENST00000934773.1",
"protein_id": "ENSP00000604832.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"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": "ENST00000934773.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "ENST00000934778.1",
"protein_id": "ENSP00000604837.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"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": "ENST00000934778.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"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": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1643dupG",
"hgvs_p": "p.Pro549fs",
"transcript": "ENST00000947105.1",
"protein_id": "ENSP00000617164.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 633,
"cds_start": 1643,
"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": "ENST00000947105.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1538dupG",
"hgvs_p": "p.Pro514fs",
"transcript": "ENST00000882596.1",
"protein_id": "ENSP00000552655.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882596.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1538dupG",
"hgvs_p": "p.Pro514fs",
"transcript": "ENST00000882597.1",
"protein_id": "ENSP00000552656.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 598,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882597.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1529dupG",
"hgvs_p": "p.Pro511fs",
"transcript": "NM_001297620.2",
"protein_id": "NP_001284549.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 595,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297620.2"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1529dupG",
"hgvs_p": "p.Pro511fs",
"transcript": "ENST00000463552.6",
"protein_id": "ENSP00000502509.2",
"transcript_support_level": 4,
"aa_start": 510,
"aa_end": null,
"aa_length": 595,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463552.6"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1529dupG",
"hgvs_p": "p.Pro511fs",
"transcript": "ENST00000882592.1",
"protein_id": "ENSP00000552651.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 595,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882592.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1529dupG",
"hgvs_p": "p.Pro511fs",
"transcript": "ENST00000934779.1",
"protein_id": "ENSP00000604838.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 595,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934779.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1475dupG",
"hgvs_p": "p.Pro493fs",
"transcript": "ENST00000882591.1",
"protein_id": "ENSP00000552650.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 577,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882591.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1475dupG",
"hgvs_p": "p.Pro493fs",
"transcript": "ENST00000947104.1",
"protein_id": "ENSP00000617163.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 577,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947104.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPR",
"gene_hgnc_id": 5047,
"hgvs_c": "c.1466dupG",
"hgvs_p": "p.Pro490fs",
"transcript": "NM_001437727.1",
"protein_id": "NP_001424656.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 574,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "HNRNPR",
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": null,
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"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": 4.915,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001102398.3",
"gene_symbol": "HNRNPR",
"hgnc_id": 5047,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}