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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: 20-34854801-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34854801&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34854801,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_178026.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "NM_178026.3",
"protein_id": "NP_821158.2",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 662,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336431.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178026.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000336431.10",
"protein_id": "ENSP00000338964.5",
"transcript_support_level": 1,
"aa_start": 409,
"aa_end": null,
"aa_length": 662,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178026.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336431.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1264G>A",
"hgvs_p": "p.Ala422Thr",
"transcript": "ENST00000885994.1",
"protein_id": "ENSP00000556053.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 675,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885994.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Ala413Thr",
"transcript": "ENST00000885991.1",
"protein_id": "ENSP00000556050.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 666,
"cds_start": 1237,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885991.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000885992.1",
"protein_id": "ENSP00000556051.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 657,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885992.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Ala398Thr",
"transcript": "ENST00000885993.1",
"protein_id": "ENSP00000556052.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 651,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885993.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1189G>A",
"hgvs_p": "p.Ala397Thr",
"transcript": "ENST00000885990.1",
"protein_id": "ENSP00000556049.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 650,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885990.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000885989.1",
"protein_id": "ENSP00000556048.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 642,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885989.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Ala376Thr",
"transcript": "ENST00000916021.1",
"protein_id": "ENSP00000586080.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 629,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916021.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "NM_001351702.2",
"protein_id": "NP_001338631.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 626,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351702.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "ENST00000916020.1",
"protein_id": "ENSP00000586079.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 616,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916020.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.886G>A",
"hgvs_p": "p.Ala296Thr",
"transcript": "ENST00000885988.1",
"protein_id": "ENSP00000556047.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 549,
"cds_start": 886,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885988.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Ala356Thr",
"transcript": "XM_047440107.1",
"protein_id": "XP_047296063.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 609,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440107.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "XM_047440108.1",
"protein_id": "XP_047296064.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 609,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440108.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "XM_047440109.1",
"protein_id": "XP_047296065.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 605,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440109.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "XM_047440110.1",
"protein_id": "XP_047296066.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 577,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440110.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr",
"transcript": "XM_017027811.2",
"protein_id": "XP_016883300.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 533,
"cds_start": 1225,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027811.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Ala199Thr",
"transcript": "XM_047440111.1",
"protein_id": "XP_047296067.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 452,
"cds_start": 595,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440111.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "XM_011528782.3",
"protein_id": "XP_011527084.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 428,
"cds_start": 523,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528782.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.376G>A",
"hgvs_p": "p.Ala126Thr",
"transcript": "XM_011528783.4",
"protein_id": "XP_011527085.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 379,
"cds_start": 376,
"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": "XM_011528783.4"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "c.743+5453G>A",
"hgvs_p": null,
"transcript": "ENST00000916019.1",
"protein_id": "ENSP00000586078.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": null,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916019.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"hgvs_c": "n.1266G>A",
"hgvs_p": null,
"transcript": "XR_001754240.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001754240.2"
}
],
"gene_symbol": "GGT7",
"gene_hgnc_id": 4259,
"dbsnp": "rs925677937",
"frequency_reference_population": 0.0000027363337,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273633,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30285751819610596,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.0981,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.85,
"phylop100way_prediction": "Uncertain_significance",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_178026.3",
"gene_symbol": "GGT7",
"hgnc_id": 4259,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Ala409Thr"
}
],
"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
}