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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: 6-25777954-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=25777954&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 25777954,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000377905.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "NM_005495.3",
"protein_id": "NP_005486.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "ENST00000377905.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "ENST00000377905.9",
"protein_id": "ENSP00000367137.4",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": "NM_005495.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Gln379*",
"transcript": "NM_001286121.1",
"protein_id": "NP_001273050.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 443,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 3700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Gln379*",
"transcript": "ENST00000439485.6",
"protein_id": "ENSP00000391345.3",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 443,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 3699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "XM_024446294.2",
"protein_id": "XP_024302062.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 3798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "XM_024446295.2",
"protein_id": "XP_024302063.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "XM_024446296.2",
"protein_id": "XP_024302064.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "XM_047418033.1",
"protein_id": "XP_047273989.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*",
"transcript": "XM_047418034.1",
"protein_id": "XP_047273990.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 497,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Gln379*",
"transcript": "XM_011514211.2",
"protein_id": "XP_011512513.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 443,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1063C>T",
"hgvs_p": "p.Gln355*",
"transcript": "XM_047418035.1",
"protein_id": "XP_047273991.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 419,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 3498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.769C>T",
"hgvs_p": "p.Gln257*",
"transcript": "XM_047418039.1",
"protein_id": "XP_047273995.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 321,
"cds_start": 769,
"cds_end": null,
"cds_length": 966,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Gln225*",
"transcript": "XM_011514218.3",
"protein_id": "XP_011512520.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 289,
"cds_start": 673,
"cds_end": null,
"cds_length": 870,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Gln203*",
"transcript": "XM_011514219.3",
"protein_id": "XP_011512521.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 607,
"cds_end": null,
"cds_length": 804,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Gln203*",
"transcript": "XM_047418040.1",
"protein_id": "XP_047273996.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 267,
"cds_start": 607,
"cds_end": null,
"cds_length": 804,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1016C>T",
"hgvs_p": "p.Ala339Val",
"transcript": "XM_047418037.1",
"protein_id": "XP_047273993.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 375,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 3451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.1149C>T",
"hgvs_p": "p.Cys383Cys",
"transcript": "XM_047418036.1",
"protein_id": "XP_047273992.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 388,
"cds_start": 1149,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.735C>T",
"hgvs_p": "p.Cys245Cys",
"transcript": "XM_047418041.1",
"protein_id": "XP_047273997.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 250,
"cds_start": 735,
"cds_end": null,
"cds_length": 753,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 1019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "n.2353C>T",
"hgvs_p": null,
"transcript": "XR_007059192.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "n.2189C>T",
"hgvs_p": null,
"transcript": "XR_007059193.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"hgvs_c": "c.*854C>T",
"hgvs_p": null,
"transcript": "ENST00000397076.2",
"protein_id": "ENSP00000380266.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": -4,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "SLC17A1",
"gene_hgnc_id": 10929,
"hgvs_c": "c.*2+20829G>A",
"hgvs_p": null,
"transcript": "XM_017011201.3",
"protein_id": "XP_016866690.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": -4,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC17A4",
"gene_hgnc_id": 10932,
"dbsnp": "rs2328894",
"frequency_reference_population": 0.012545492,
"hom_count_reference_population": 175,
"allele_count_reference_population": 20235,
"gnomad_exomes_af": 0.0128425,
"gnomad_genomes_af": 0.00969547,
"gnomad_exomes_ac": 18759,
"gnomad_genomes_ac": 1476,
"gnomad_exomes_homalt": 164,
"gnomad_genomes_homalt": 11,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27000001072883606,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.02,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000377905.9",
"gene_symbol": "SLC17A4",
"hgnc_id": 10932,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1297C>T",
"hgvs_p": "p.Gln433*"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XM_017011201.3",
"gene_symbol": "SLC17A1",
"hgnc_id": 10929,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*2+20829G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}