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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: 9-136430288-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136430288&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136430288,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_019892.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Pro597Pro",
"transcript": "NM_019892.6",
"protein_id": "NP_063945.2",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 644,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371712.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019892.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Pro597Pro",
"transcript": "ENST00000371712.4",
"protein_id": "ENSP00000360777.3",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 644,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019892.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371712.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1812G>C",
"hgvs_p": "p.Pro604Pro",
"transcript": "ENST00000930360.1",
"protein_id": "ENSP00000600419.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 651,
"cds_start": 1812,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930360.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Pro596Pro",
"transcript": "NM_001318502.2",
"protein_id": "NP_001305431.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 643,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318502.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Pro596Pro",
"transcript": "ENST00000910890.1",
"protein_id": "ENSP00000580949.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 643,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910890.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Pro596Pro",
"transcript": "ENST00000960334.1",
"protein_id": "ENSP00000630393.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 643,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960334.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1755G>C",
"hgvs_p": "p.Pro585Pro",
"transcript": "ENST00000930356.1",
"protein_id": "ENSP00000600415.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 632,
"cds_start": 1755,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930356.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1752G>C",
"hgvs_p": "p.Pro584Pro",
"transcript": "ENST00000930357.1",
"protein_id": "ENSP00000600416.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 631,
"cds_start": 1752,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930357.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1689G>C",
"hgvs_p": "p.Pro563Pro",
"transcript": "ENST00000676019.1",
"protein_id": "ENSP00000501984.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 610,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676019.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1686G>C",
"hgvs_p": "p.Pro562Pro",
"transcript": "ENST00000910891.1",
"protein_id": "ENSP00000580950.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 609,
"cds_start": 1686,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910891.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1683G>C",
"hgvs_p": "p.Pro561Pro",
"transcript": "ENST00000910889.1",
"protein_id": "ENSP00000580948.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 608,
"cds_start": 1683,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910889.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1671G>C",
"hgvs_p": "p.Pro557Pro",
"transcript": "ENST00000930358.1",
"protein_id": "ENSP00000600417.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 604,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930358.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1668G>C",
"hgvs_p": "p.Pro556Pro",
"transcript": "ENST00000960337.1",
"protein_id": "ENSP00000630396.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 603,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960337.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1569G>C",
"hgvs_p": "p.Pro523Pro",
"transcript": "ENST00000960336.1",
"protein_id": "ENSP00000630395.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 570,
"cds_start": 1569,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960336.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Pro597Pro",
"transcript": "XM_017014926.2",
"protein_id": "XP_016870415.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 602,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014926.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1788G>C",
"hgvs_p": "p.Pro596Pro",
"transcript": "XM_047423603.1",
"protein_id": "XP_047279559.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 601,
"cds_start": 1788,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423603.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1760+31G>C",
"hgvs_p": null,
"transcript": "ENST00000960335.1",
"protein_id": "ENSP00000630394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960335.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "c.1757+31G>C",
"hgvs_p": null,
"transcript": "ENST00000930359.1",
"protein_id": "ENSP00000600418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": null,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930359.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"hgvs_c": "n.*47G>C",
"hgvs_p": null,
"transcript": "ENST00000674693.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000674693.1"
}
],
"gene_symbol": "INPP5E",
"gene_hgnc_id": 21474,
"dbsnp": "rs10870182",
"frequency_reference_population": 0.008353713,
"hom_count_reference_population": 83,
"allele_count_reference_population": 12960,
"gnomad_exomes_af": 0.00872499,
"gnomad_genomes_af": 0.00494348,
"gnomad_exomes_ac": 12207,
"gnomad_genomes_ac": 753,
"gnomad_exomes_homalt": 81,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.814,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_019892.6",
"gene_symbol": "INPP5E",
"hgnc_id": 21474,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Pro597Pro"
}
],
"clinvar_disease": "Joubert syndrome,Joubert syndrome 1,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:5",
"phenotype_combined": "not specified|Joubert syndrome|Joubert syndrome 1|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}