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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: 2-178456149-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178456149&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 178456149,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000644580.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Trp",
"transcript": "NM_001042702.5",
"protein_id": "NP_001036167.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 352,
"cds_start": 547,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": "ENST00000644580.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Trp",
"transcript": "ENST00000644580.2",
"protein_id": "ENSP00000495855.2",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 352,
"cds_start": 547,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": "NM_001042702.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Trp",
"transcript": "ENST00000375129.8",
"protein_id": "ENSP00000364271.4",
"transcript_support_level": 1,
"aa_start": 183,
"aa_end": null,
"aa_length": 352,
"cds_start": 547,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 690,
"cdna_end": null,
"cdna_length": 1202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "n.1417C>T",
"hgvs_p": null,
"transcript": "ENST00000437056.5",
"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": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_001353775.2",
"protein_id": "NP_001340704.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 355,
"cds_start": 556,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Trp",
"transcript": "NM_001353776.2",
"protein_id": "NP_001340705.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 354,
"cds_start": 652,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Trp",
"transcript": "NM_001369912.1",
"protein_id": "NP_001356841.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 352,
"cds_start": 547,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Trp",
"transcript": "ENST00000645572.1",
"protein_id": "ENSP00000494301.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 299,
"cds_start": 547,
"cds_end": null,
"cds_length": 901,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "NM_001353777.1",
"protein_id": "NP_001340706.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 193,
"cds_start": 70,
"cds_end": null,
"cds_length": 582,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "NM_001353778.2",
"protein_id": "NP_001340707.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 193,
"cds_start": 70,
"cds_end": null,
"cds_length": 582,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "ENST00000642192.1",
"protein_id": "ENSP00000494225.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 193,
"cds_start": 70,
"cds_end": null,
"cds_length": 582,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "ENST00000642492.1",
"protein_id": "ENSP00000496267.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 193,
"cds_start": 70,
"cds_end": null,
"cds_length": 582,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "ENST00000645817.1",
"protein_id": "ENSP00000495731.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 193,
"cds_start": 70,
"cds_end": null,
"cds_length": 582,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "ENST00000647226.1",
"protein_id": "ENSP00000496024.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 193,
"cds_start": 70,
"cds_end": null,
"cds_length": 582,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.388C>T",
"hgvs_p": "p.Arg130Trp",
"transcript": "ENST00000442710.5",
"protein_id": "ENSP00000410776.1",
"transcript_support_level": 5,
"aa_start": 130,
"aa_end": null,
"aa_length": 155,
"cds_start": 388,
"cds_end": null,
"cds_length": 468,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "ENST00000643738.1",
"protein_id": "ENSP00000493684.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 28,
"cds_start": 70,
"cds_end": null,
"cds_length": 89,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Arg218Trp",
"transcript": "XM_017004221.3",
"protein_id": "XP_016859710.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 387,
"cds_start": 652,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "n.187C>T",
"hgvs_p": null,
"transcript": "ENST00000444615.1",
"protein_id": "ENSP00000399579.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "n.204C>T",
"hgvs_p": null,
"transcript": "ENST00000643768.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 511,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "n.661C>T",
"hgvs_p": null,
"transcript": "ENST00000645762.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "n.752C>T",
"hgvs_p": null,
"transcript": "XR_922929.4",
"protein_id": null,
"transcript_support_level": null,
"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": 1034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"hgvs_c": "c.*57C>T",
"hgvs_p": null,
"transcript": "ENST00000644554.1",
"protein_id": "ENSP00000495037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3,
"cds_start": -4,
"cds_end": null,
"cds_length": 13,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PJVK",
"gene_hgnc_id": 29502,
"dbsnp": "rs111706634",
"frequency_reference_population": 0.0000074368977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000684266,
"gnomad_genomes_af": 0.0000131444,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8927369117736816,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5379999876022339,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.435,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.425,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.8,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.581487527746023,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000644580.2",
"gene_symbol": "PJVK",
"hgnc_id": 29502,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Arg183Trp"
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 59,Ear malformation,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Autosomal recessive nonsyndromic hearing loss 59|not provided|Ear malformation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}