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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: 18-45739587-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=45739587&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 45739587,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000321925.9",
"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": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.871T>C",
"hgvs_p": "p.Ser291Pro",
"transcript": "NM_015865.7",
"protein_id": "NP_056949.4",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 389,
"cds_start": 871,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": "ENST00000321925.9",
"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": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.871T>C",
"hgvs_p": "p.Ser291Pro",
"transcript": "ENST00000321925.9",
"protein_id": "ENSP00000318546.4",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 389,
"cds_start": 871,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": "NM_015865.7",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.871T>C",
"hgvs_p": "p.Ser291Pro",
"transcript": "ENST00000586142.5",
"protein_id": "ENSP00000470476.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 389,
"cds_start": 871,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 2846,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.475T>C",
"hgvs_p": "p.Ser159Pro",
"transcript": "ENST00000535474.5",
"protein_id": "ENSP00000441998.1",
"transcript_support_level": 1,
"aa_start": 159,
"aa_end": null,
"aa_length": 257,
"cds_start": 475,
"cds_end": null,
"cds_length": 774,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.723T>C",
"hgvs_p": "p.Ala241Ala",
"transcript": "ENST00000589700.5",
"protein_id": "ENSP00000465044.1",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 302,
"cds_start": 723,
"cds_end": null,
"cds_length": 909,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1022,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "NM_001128588.4",
"protein_id": "NP_001122060.3",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 445,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4075,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "NM_001146037.1",
"protein_id": "NP_001139509.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 445,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1358,
"cdna_end": null,
"cdna_length": 4226,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "ENST00000415427.7",
"protein_id": "ENSP00000412309.2",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 445,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1554,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "ENST00000436407.7",
"protein_id": "ENSP00000390637.2",
"transcript_support_level": 2,
"aa_start": 347,
"aa_end": null,
"aa_length": 445,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 2264,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "NM_001439164.1",
"protein_id": "NP_001426093.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 402,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1675,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.871T>C",
"hgvs_p": "p.Ser291Pro",
"transcript": "NM_001146036.3",
"protein_id": "NP_001139508.2",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 389,
"cds_start": 871,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1136,
"cdna_end": null,
"cdna_length": 4004,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.871T>C",
"hgvs_p": "p.Ser291Pro",
"transcript": "ENST00000586951.6",
"protein_id": "ENSP00000465702.2",
"transcript_support_level": 4,
"aa_start": 291,
"aa_end": null,
"aa_length": 389,
"cds_start": 871,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1496,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "NM_001308278.2",
"protein_id": "NP_001295207.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 284,
"cds_start": 556,
"cds_end": null,
"cds_length": 855,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 3745,
"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": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.556T>C",
"hgvs_p": "p.Ser186Pro",
"transcript": "ENST00000402943.6",
"protein_id": "ENSP00000385320.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 284,
"cds_start": 556,
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"cdna_start": 874,
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"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.475T>C",
"hgvs_p": "p.Ser159Pro",
"transcript": "NM_001308279.2",
"protein_id": "NP_001295208.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 257,
"cds_start": 475,
"cds_end": null,
"cds_length": 774,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 3555,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.475T>C",
"hgvs_p": "p.Ser159Pro",
"transcript": "NM_001439165.1",
"protein_id": "NP_001426094.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
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"cds_start": 475,
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"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.475T>C",
"hgvs_p": "p.Ser159Pro",
"transcript": "ENST00000589322.7",
"protein_id": "ENSP00000466273.3",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 257,
"cds_start": 475,
"cds_end": null,
"cds_length": 774,
"cdna_start": 620,
"cdna_end": null,
"cdna_length": 976,
"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": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "XM_006722526.4",
"protein_id": "XP_006722589.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 424,
"cds_start": 976,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1184,
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"cdna_length": 4052,
"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": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "XM_011526142.2",
"protein_id": "XP_011524444.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 424,
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"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.976T>C",
"hgvs_p": "p.Ser326Pro",
"transcript": "XM_047437758.1",
"protein_id": "XP_047293714.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 424,
"cds_start": 976,
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"cdna_start": 1271,
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"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "XM_047437759.1",
"protein_id": "XP_047293715.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 377,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1453,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1039T>C",
"hgvs_p": "p.Ser347Pro",
"transcript": "XM_011526144.2",
"protein_id": "XP_011524446.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 374,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
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{
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"BP4",
"BS2_Supporting"
],
"verdict": "Likely_benign",
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{
"score": -4,
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"BS2"
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"verdict": "Likely_benign",
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"effects": [
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{
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"BS2"
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"verdict": "Likely_benign",
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],
"clinvar_disease": " finnish type,Jk-null variant",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Jk-null variant, finnish type",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}