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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: 19-49711857-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49711857&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49711857,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000598293.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001199753.2",
"protein_id": "NP_001186682.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": "ENST00000598293.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "ENST00000598293.6",
"protein_id": "ENSP00000473028.1",
"transcript_support_level": 2,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": "NM_001199753.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "ENST00000323446.9",
"protein_id": "ENSP00000319343.4",
"transcript_support_level": 1,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "ENST00000405931.6",
"protein_id": "ENSP00000384465.2",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 792,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2785,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.732+1000G>A",
"hgvs_p": null,
"transcript": "ENST00000595031.1",
"protein_id": "ENSP00000472579.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 336,
"cds_start": -4,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Ala661Thr",
"transcript": "NM_001378482.1",
"protein_id": "NP_001365411.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 825,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2289,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001199752.3",
"protein_id": "NP_001186681.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001378483.1",
"protein_id": "NP_001365412.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2264,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_001378484.1",
"protein_id": "NP_001365413.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2052,
"cdna_end": null,
"cdna_length": 2675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "NM_152359.3",
"protein_id": "NP_689572.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 2777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "ENST00000392518.8",
"protein_id": "ENSP00000376303.4",
"transcript_support_level": 2,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "NM_001136052.3",
"protein_id": "NP_001129524.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 792,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "NM_001378485.1",
"protein_id": "NP_001365414.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 792,
"cds_start": 1882,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2046,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Ala594Thr",
"transcript": "NM_001378486.1",
"protein_id": "NP_001365415.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 758,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 2775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Ala594Thr",
"transcript": "NM_001378488.1",
"protein_id": "NP_001365417.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 758,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 2711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Ala583Thr",
"transcript": "NM_001378487.1",
"protein_id": "NP_001365416.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 747,
"cds_start": 1747,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 2678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Ala661Thr",
"transcript": "XM_047438151.1",
"protein_id": "XP_047294107.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 825,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Ala661Thr",
"transcript": "XM_047438152.1",
"protein_id": "XP_047294108.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 825,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2220,
"cdna_end": null,
"cdna_length": 2843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Ala661Thr",
"transcript": "XM_047438153.1",
"protein_id": "XP_047294109.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 825,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Ala661Thr",
"transcript": "XM_047438154.1",
"protein_id": "XP_047294110.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 825,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1981G>A",
"hgvs_p": "p.Ala661Thr",
"transcript": "XM_047438155.1",
"protein_id": "XP_047294111.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 825,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr",
"transcript": "XM_047438156.1",
"protein_id": "XP_047294112.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 803,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 2203,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPT1C",
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}
],
"gene_symbol": "CPT1C",
"gene_hgnc_id": 18540,
"dbsnp": "rs143478074",
"frequency_reference_population": 0.003228097,
"hom_count_reference_population": 10,
"allele_count_reference_population": 5210,
"gnomad_exomes_af": 0.00334016,
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"gnomad_exomes_ac": 4882,
"gnomad_genomes_ac": 328,
"gnomad_exomes_homalt": 9,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.007761627435684204,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.182,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.145,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000598293.6",
"gene_symbol": "CPT1C",
"hgnc_id": 18540,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Ala639Thr"
}
],
"clinvar_disease": "CPT1C-related disorder,Hereditary spastic paraplegia 73,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Hereditary spastic paraplegia 73|not provided|CPT1C-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}