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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: 5-132213966-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132213966&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132213966,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000360568.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001365677.2",
"protein_id": "NP_001352606.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 535,
"cds_start": 419,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "ENST00000379104.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000379104.7",
"protein_id": "ENSP00000368398.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 535,
"cds_start": 419,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": "NM_001365677.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001017974.2",
"protein_id": "NP_001017974.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": "ENST00000360568.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000360568.8",
"protein_id": "ENSP00000353772.3",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": "NM_001017974.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000166534.8",
"protein_id": "ENSP00000166534.4",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 535,
"cds_start": 419,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001142599.2",
"protein_id": "NP_001136071.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 535,
"cds_start": 419,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 4689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_004199.3",
"protein_id": "NP_004190.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 535,
"cds_start": 419,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 4884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000401867.5",
"protein_id": "ENSP00000384999.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 535,
"cds_start": 419,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 3349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001142598.2",
"protein_id": "NP_001136070.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 4683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001365678.2",
"protein_id": "NP_001352607.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 4720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001365679.2",
"protein_id": "NP_001352608.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 5109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001365680.2",
"protein_id": "NP_001352609.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 791,
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"cdna_length": 4837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000379086.5",
"protein_id": "ENSP00000368379.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 533,
"cds_start": 419,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2223,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000379100.7",
"protein_id": "ENSP00000368394.2",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "NM_001365681.2",
"protein_id": "NP_001352610.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 474,
"cds_start": 419,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.515A>G",
"hgvs_p": "p.Gln172Arg",
"transcript": "ENST00000431054.5",
"protein_id": "ENSP00000391257.1",
"transcript_support_level": 4,
"aa_start": 172,
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"cds_start": 515,
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"cdna_start": 531,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000417528.5",
"protein_id": "ENSP00000389523.1",
"transcript_support_level": 3,
"aa_start": 140,
"aa_end": null,
"aa_length": 203,
"cds_start": 419,
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"cds_length": 613,
"cdna_start": 829,
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"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000439698.5",
"protein_id": "ENSP00000405406.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 183,
"cds_start": 419,
"cds_end": null,
"cds_length": 552,
"cdna_start": 733,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000395164.5",
"protein_id": "ENSP00000378593.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000453286.5",
"protein_id": "ENSP00000413542.1",
"transcript_support_level": 5,
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"aa_length": 152,
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"cdna_start": 777,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg",
"transcript": "ENST00000428369.6",
"protein_id": "ENSP00000396495.1",
"transcript_support_level": 2,
"aa_start": 140,
"aa_end": null,
"aa_length": 145,
"cds_start": 419,
"cds_end": null,
"cds_length": 440,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 2397,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"hgvs_c": "c.*75A>G",
"hgvs_p": null,
"transcript": "ENST00000418055.5",
"protein_id": "ENSP00000403883.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "P4HA2",
"gene_hgnc_id": 8547,
"dbsnp": "rs764211125",
"frequency_reference_population": 0.000011151933,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000957713,
"gnomad_genomes_af": 0.0000262719,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9169716238975525,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.934,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9042,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.239,
"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": "Likely_benign",
"acmg_criteria": "PP3_Moderate,PP5,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PP3_Moderate",
"PP5",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000360568.8",
"gene_symbol": "P4HA2",
"hgnc_id": 8547,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.419A>G",
"hgvs_p": "p.Gln140Arg"
}
],
"clinvar_disease": " autosomal dominant,Myopia 25",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Myopia 25, autosomal dominant",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}