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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: 1-13780865-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=13780865&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 13780865,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000311066.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Ser1024Pro",
"transcript": "NM_001393986.1",
"protein_id": "NP_001380915.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3070,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": "ENST00000311066.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Ser1024Pro",
"transcript": "ENST00000311066.10",
"protein_id": "ENSP00000312352.6",
"transcript_support_level": 5,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3070,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 3248,
"cdna_end": null,
"cdna_length": 7279,
"mane_select": "NM_001393986.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Ser1024Pro",
"transcript": "ENST00000235372.11",
"protein_id": "ENSP00000235372.6",
"transcript_support_level": 1,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3070,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 3926,
"cdna_end": null,
"cdna_length": 7957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "ENST00000343137.8",
"protein_id": "ENSP00000341621.4",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1481,
"cds_start": 2467,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 5797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "ENST00000413440.5",
"protein_id": "ENSP00000411103.1",
"transcript_support_level": 1,
"aa_start": 823,
"aa_end": null,
"aa_length": 1481,
"cds_start": 2467,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 6175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.19+7677T>C",
"hgvs_p": null,
"transcript": "ENST00000503842.5",
"protein_id": "ENSP00000425028.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.19+7677T>C",
"hgvs_p": null,
"transcript": "ENST00000505823.5",
"protein_id": "ENSP00000426737.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Ser1024Pro",
"transcript": "NM_012231.5",
"protein_id": "NP_036363.2",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1718,
"cds_start": 3070,
"cds_end": null,
"cds_length": 5157,
"cdna_start": 5027,
"cdna_end": null,
"cdna_length": 9058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Ser1024Pro",
"transcript": "NM_015866.6",
"protein_id": "NP_056950.2",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1682,
"cds_start": 3070,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 5027,
"cdna_end": null,
"cdna_length": 8560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "NM_001393987.1",
"protein_id": "NP_001380916.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1517,
"cds_start": 2467,
"cds_end": null,
"cds_length": 4554,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "NM_001007257.3",
"protein_id": "NP_001007258.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1481,
"cds_start": 2467,
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"cds_length": 4446,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 6165,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "NM_001393988.1",
"protein_id": "NP_001380917.1",
"transcript_support_level": null,
"aa_start": 823,
"aa_end": null,
"aa_length": 1481,
"cds_start": 2467,
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"cdna_start": 2688,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.3067T>C",
"hgvs_p": "p.Ser1023Pro",
"transcript": "XM_047429996.1",
"protein_id": "XP_047285952.1",
"transcript_support_level": null,
"aa_start": 1023,
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"aa_length": 1717,
"cds_start": 3067,
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"cdna_start": 3235,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2848T>C",
"hgvs_p": "p.Ser950Pro",
"transcript": "XM_047429994.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2848T>C",
"hgvs_p": "p.Ser950Pro",
"transcript": "XM_047429995.1",
"protein_id": "XP_047285951.1",
"transcript_support_level": null,
"aa_start": 950,
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"aa_length": 1608,
"cds_start": 2848,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "XM_017002260.3",
"protein_id": "XP_016857749.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "XM_017002261.3",
"protein_id": "XP_016857750.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.2467T>C",
"hgvs_p": "p.Ser823Pro",
"transcript": "XM_047429997.1",
"protein_id": "XP_047285953.1",
"transcript_support_level": null,
"aa_start": 823,
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"cdna_start": 2864,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "PRDM2",
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"hgvs_p": "p.Ser823Pro",
"transcript": "XM_047429998.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.511+31378T>C",
"hgvs_p": null,
"transcript": "NM_001135610.2",
"protein_id": "NP_001129082.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "c.511+31378T>C",
"hgvs_p": null,
"transcript": "ENST00000376048.9",
"protein_id": "ENSP00000365216.5",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"hgvs_c": "n.*413-5650T>C",
"hgvs_p": null,
"transcript": "ENST00000491134.5",
"protein_id": "ENSP00000424253.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PRDM2",
"gene_hgnc_id": 9347,
"dbsnp": "rs41269807",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20476257801055908,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.5145,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.466,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000311066.10",
"gene_symbol": "PRDM2",
"hgnc_id": 9347,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3070T>C",
"hgvs_p": "p.Ser1024Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}