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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: 19-45306817-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45306817&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45306817,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001824.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "NM_001824.5",
"protein_id": "NP_001815.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000221476.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001824.5"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000221476.4",
"protein_id": "ENSP00000221476.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001824.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000221476.4"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1232T>C",
"hgvs_p": "p.Met411Thr",
"transcript": "ENST00000969560.1",
"protein_id": "ENSP00000639619.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 432,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969560.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1196T>C",
"hgvs_p": "p.Met399Thr",
"transcript": "ENST00000969562.1",
"protein_id": "ENSP00000639621.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 420,
"cds_start": 1196,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969562.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1112T>C",
"hgvs_p": "p.Met371Thr",
"transcript": "ENST00000969561.1",
"protein_id": "ENSP00000639620.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 392,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969561.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000859489.1",
"protein_id": "ENSP00000529548.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859489.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000969553.1",
"protein_id": "ENSP00000639612.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969553.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000969554.1",
"protein_id": "ENSP00000639613.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969554.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000969559.1",
"protein_id": "ENSP00000639618.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969559.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr",
"transcript": "ENST00000969563.1",
"protein_id": "ENSP00000639622.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 381,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969563.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1076T>C",
"hgvs_p": "p.Met359Thr",
"transcript": "ENST00000969555.1",
"protein_id": "ENSP00000639614.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 380,
"cds_start": 1076,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969555.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Met358Thr",
"transcript": "ENST00000859491.1",
"protein_id": "ENSP00000529550.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 379,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859491.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1073T>C",
"hgvs_p": "p.Met358Thr",
"transcript": "ENST00000969558.1",
"protein_id": "ENSP00000639617.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 379,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969558.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1070T>C",
"hgvs_p": "p.Met357Thr",
"transcript": "ENST00000969556.1",
"protein_id": "ENSP00000639615.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 378,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969556.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Met355Thr",
"transcript": "ENST00000969557.1",
"protein_id": "ENSP00000639616.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 376,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969557.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.1031T>C",
"hgvs_p": "p.Met344Thr",
"transcript": "ENST00000859492.1",
"protein_id": "ENSP00000529551.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 365,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859492.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.920T>C",
"hgvs_p": "p.Met307Thr",
"transcript": "ENST00000969564.1",
"protein_id": "ENSP00000639623.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 328,
"cds_start": 920,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969564.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.791T>C",
"hgvs_p": "p.Met264Thr",
"transcript": "ENST00000859490.1",
"protein_id": "ENSP00000529549.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 285,
"cds_start": 791,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859490.1"
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"hgvs_c": "c.584T>C",
"hgvs_p": "p.Met195Thr",
"transcript": "ENST00000859493.1",
"protein_id": "ENSP00000529552.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 216,
"cds_start": 584,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859493.1"
}
],
"gene_symbol": "CKM",
"gene_hgnc_id": 1994,
"dbsnp": "rs76072092",
"frequency_reference_population": 0.000009913062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.00000657263,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7641664743423462,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.587,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9032,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.299,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001824.5",
"gene_symbol": "CKM",
"hgnc_id": 1994,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1079T>C",
"hgvs_p": "p.Met360Thr"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}