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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: 12-19274649-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=19274649&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 19274649,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001256470.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001256470.2",
"protein_id": "NP_001243399.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1282,
"cds_start": 979,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": "ENST00000429027.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "ENST00000429027.7",
"protein_id": "ENSP00000404296.2",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 1282,
"cds_start": 979,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4797,
"mane_select": "NM_001256470.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "ENST00000538714.5",
"protein_id": "ENSP00000439673.1",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 1174,
"cds_start": 961,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 965,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "ENST00000299275.10",
"protein_id": "ENSP00000299275.6",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 1116,
"cds_start": 961,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "n.488G>C",
"hgvs_p": null,
"transcript": "ENST00000510738.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385923.1",
"protein_id": "NP_001372852.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1276,
"cds_start": 961,
"cds_end": null,
"cds_length": 3831,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001385924.1",
"protein_id": "NP_001372853.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1270,
"cds_start": 979,
"cds_end": null,
"cds_length": 3813,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385925.1",
"protein_id": "NP_001372854.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1264,
"cds_start": 961,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001385926.1",
"protein_id": "NP_001372855.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1262,
"cds_start": 979,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001385927.1",
"protein_id": "NP_001372856.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1242,
"cds_start": 979,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385928.1",
"protein_id": "NP_001372857.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1226,
"cds_start": 961,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001385929.1",
"protein_id": "NP_001372858.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1219,
"cds_start": 979,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385930.1",
"protein_id": "NP_001372859.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1213,
"cds_start": 961,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001385931.1",
"protein_id": "NP_001372860.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1207,
"cds_start": 979,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 4572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385932.1",
"protein_id": "NP_001372861.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1179,
"cds_start": 961,
"cds_end": null,
"cds_length": 3540,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001143821.3",
"protein_id": "NP_001137293.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1174,
"cds_start": 961,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 6565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.655G>C",
"hgvs_p": "p.Ala219Pro",
"transcript": "NM_001385933.1",
"protein_id": "NP_001372862.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 1174,
"cds_start": 655,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 4647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385968.1",
"protein_id": "NP_001372897.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1174,
"cds_start": 961,
"cds_end": null,
"cds_length": 3525,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro",
"transcript": "NM_001385934.1",
"protein_id": "NP_001372863.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 1161,
"cds_start": 979,
"cds_end": null,
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"cdna_start": 1046,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Ala213Pro",
"transcript": "NM_001385935.1",
"protein_id": "NP_001372864.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1156,
"cds_start": 637,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.637G>C",
"hgvs_p": "p.Ala213Pro",
"transcript": "ENST00000700688.1",
"protein_id": "ENSP00000515145.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1156,
"cds_start": 637,
"cds_end": null,
"cds_length": 3471,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
"gene_hgnc_id": 30036,
"hgvs_c": "c.961G>C",
"hgvs_p": "p.Ala321Pro",
"transcript": "NM_001385936.1",
"protein_id": "NP_001372865.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 1155,
"cds_start": 961,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHA5",
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"gnomad_genomes_af": 0.0000263103,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2866361141204834,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.5198,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.442,
"phylop100way_prediction": "Uncertain_significance",
"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": 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_001256470.2",
"gene_symbol": "PLEKHA5",
"hgnc_id": 30036,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.979G>C",
"hgvs_p": "p.Ala327Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}