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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: 6-110623334-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110623334&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110623334,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000368911.8",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Met297Val",
"transcript": "NM_015076.5",
"protein_id": "NP_055891.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 502,
"cds_start": 889,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": "ENST00000368911.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Met297Val",
"transcript": "ENST00000368911.8",
"protein_id": "ENSP00000357907.3",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 502,
"cds_start": 889,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 6399,
"mane_select": "NM_015076.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "ENST00000323817.7",
"protein_id": "ENSP00000317665.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Met193Val",
"transcript": "ENST00000413605.6",
"protein_id": "ENSP00000410604.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 398,
"cds_start": 577,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 830,
"cdna_end": null,
"cdna_length": 6007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.757A>G",
"hgvs_p": "p.Met253Val",
"transcript": "NM_001300960.2",
"protein_id": "NP_001287889.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 458,
"cds_start": 757,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "NM_001300963.2",
"protein_id": "NP_001287892.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 890,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "NM_001300964.2",
"protein_id": "NP_001287893.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 5986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "ENST00000457688.5",
"protein_id": "ENSP00000415621.1",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 250,
"cds_start": 709,
"cds_end": null,
"cds_length": 753,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.826A>G",
"hgvs_p": "p.Met276Val",
"transcript": "XM_047418465.1",
"protein_id": "XP_047274421.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 481,
"cds_start": 826,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 8282,
"cdna_end": null,
"cdna_length": 13459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "XM_024446376.2",
"protein_id": "XP_024302144.2",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "XM_024446377.2",
"protein_id": "XP_024302145.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 6461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "XM_024446378.2",
"protein_id": "XP_024302146.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
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"cdna_start": 6474,
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"cdna_length": 11651,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "XM_024446380.2",
"protein_id": "XP_024302148.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
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"cdna_start": 1054,
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"cdna_length": 6231,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "XM_047418467.1",
"protein_id": "XP_047274423.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Met237Val",
"transcript": "XM_047418468.1",
"protein_id": "XP_047274424.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 442,
"cds_start": 709,
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"cdna_start": 7003,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.637A>G",
"hgvs_p": "p.Met213Val",
"transcript": "XM_047418469.1",
"protein_id": "XP_047274425.1",
"transcript_support_level": null,
"aa_start": 213,
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"cds_start": 637,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.577A>G",
"hgvs_p": "p.Met193Val",
"transcript": "XM_011535630.3",
"protein_id": "XP_011533932.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 398,
"cds_start": 577,
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"cdna_start": 739,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Met173Val",
"transcript": "XM_005266871.4",
"protein_id": "XP_005266928.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 378,
"cds_start": 517,
"cds_end": null,
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"cdna_start": 665,
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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": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.457A>G",
"hgvs_p": "p.Met153Val",
"transcript": "XM_047418470.1",
"protein_id": "XP_047274426.1",
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"aa_start": 153,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.370A>G",
"hgvs_p": "p.Met124Val",
"transcript": "XM_047418471.1",
"protein_id": "XP_047274427.1",
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"aa_start": 124,
"aa_end": null,
"aa_length": 329,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
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"gene_symbol": "CDK19",
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"hgvs_c": "c.370A>G",
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"transcript": "XM_047418472.1",
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"mane_select": null,
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"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"hgvs_c": "c.*54A>G",
"hgvs_p": null,
"transcript": "XM_047418473.1",
"protein_id": "XP_047274429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 316,
"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
}
],
"gene_symbol": "CDK19",
"gene_hgnc_id": 19338,
"dbsnp": "rs777727767",
"frequency_reference_population": 6.8413397e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84134e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4077740013599396,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.232,
"revel_prediction": "Benign",
"alphamissense_score": 0.552,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.626,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000368911.8",
"gene_symbol": "CDK19",
"hgnc_id": 19338,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.889A>G",
"hgvs_p": "p.Met297Val"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}