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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: 12-7829839-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7829839&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7829839,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001286237.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "NM_001286234.2",
"protein_id": "NP_001273163.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 497,
"cds_start": 440,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "ENST00000431042.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286234.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000431042.7",
"protein_id": "ENSP00000407287.2",
"transcript_support_level": 1,
"aa_start": 147,
"aa_end": null,
"aa_length": 497,
"cds_start": 440,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": "NM_001286234.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431042.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "ENST00000396589.6",
"protein_id": "ENSP00000379834.2",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2335,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396589.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "ENST00000543909.5",
"protein_id": "ENSP00000440480.1",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543909.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.-144-8514C>T",
"hgvs_p": null,
"transcript": "ENST00000542505.5",
"protein_id": "ENSP00000438484.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542505.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "NM_001286237.2",
"protein_id": "NP_001273166.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 535,
"cds_start": 554,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 623,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286237.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu",
"transcript": "ENST00000539924.5",
"protein_id": "ENSP00000445929.1",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 535,
"cds_start": 554,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539924.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "NM_001286233.2",
"protein_id": "NP_001273162.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1360,
"cdna_end": null,
"cdna_length": 4216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286233.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "NM_153449.4",
"protein_id": "NP_703150.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153449.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Leu",
"transcript": "ENST00000616981.4",
"protein_id": "ENSP00000482927.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 520,
"cds_start": 509,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616981.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "NM_001286235.2",
"protein_id": "NP_001273164.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 497,
"cds_start": 440,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286235.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000340749.9",
"protein_id": "ENSP00000340450.5",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 497,
"cds_start": 440,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340749.9"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000864025.1",
"protein_id": "ENSP00000534084.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 497,
"cds_start": 440,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864025.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000940598.1",
"protein_id": "ENSP00000610657.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 497,
"cds_start": 440,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940598.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Ser61Leu",
"transcript": "NM_001286236.2",
"protein_id": "NP_001273165.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 411,
"cds_start": 182,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286236.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Ser61Leu",
"transcript": "ENST00000535295.5",
"protein_id": "ENSP00000440492.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 411,
"cds_start": 182,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535295.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.182C>T",
"hgvs_p": "p.Ser61Leu",
"transcript": "ENST00000542546.5",
"protein_id": "ENSP00000443903.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 411,
"cds_start": 182,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 3120,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542546.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000546234.5",
"protein_id": "ENSP00000440043.1",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 168,
"cds_start": 440,
"cds_end": null,
"cds_length": 507,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546234.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.440C>T",
"hgvs_p": "p.Ser147Leu",
"transcript": "ENST00000542782.5",
"protein_id": "ENSP00000438312.1",
"transcript_support_level": 2,
"aa_start": 147,
"aa_end": null,
"aa_length": 151,
"cds_start": 440,
"cds_end": null,
"cds_length": 457,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 682,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542782.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.*85C>T",
"hgvs_p": null,
"transcript": "ENST00000537557.5",
"protein_id": "ENSP00000440044.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537557.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.*17C>T",
"hgvs_p": null,
"transcript": "ENST00000535344.5",
"protein_id": "ENSP00000443217.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 140,
"cds_start": null,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535344.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"hgvs_c": "c.*149C>T",
"hgvs_p": null,
"transcript": "ENST00000535266.5",
"protein_id": "ENSP00000437653.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": null,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535266.5"
}
],
"gene_symbol": "SLC2A14",
"gene_hgnc_id": 18301,
"dbsnp": "rs765545777",
"frequency_reference_population": 0.00001363014,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000123128,
"gnomad_genomes_af": 0.0000262847,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8440585732460022,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.735,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.655,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.632,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001286237.2",
"gene_symbol": "SLC2A14",
"hgnc_id": 18301,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Ser185Leu"
}
],
"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
}