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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: 2-85840272-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85840272&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 85840272,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003896.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ser377Gly",
"transcript": "NM_003896.4",
"protein_id": "NP_003887.3",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 418,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "ENST00000638572.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003896.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1129A>G",
"hgvs_p": "p.Ser377Gly",
"transcript": "ENST00000638572.2",
"protein_id": "ENSP00000491316.1",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 418,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 4366,
"mane_select": "NM_003896.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638572.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1060A>G",
"hgvs_p": "p.Ser354Gly",
"transcript": "ENST00000393808.8",
"protein_id": "ENSP00000377397.3",
"transcript_support_level": 1,
"aa_start": 354,
"aa_end": null,
"aa_length": 395,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393808.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "ENST00000393805.6",
"protein_id": "ENSP00000377394.1",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393805.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.2364A>G",
"hgvs_p": null,
"transcript": "ENST00000461206.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3487,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.1979A>G",
"hgvs_p": null,
"transcript": "ENST00000639472.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000639472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1134A>G",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"transcript_support_level": 1,
"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": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "n.*1134A>G",
"hgvs_p": null,
"transcript": "ENST00000640378.1",
"protein_id": "ENSP00000492030.1",
"transcript_support_level": 1,
"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": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640378.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1186A>G",
"hgvs_p": "p.Ser396Gly",
"transcript": "ENST00000640418.1",
"protein_id": "ENSP00000492098.1",
"transcript_support_level": 5,
"aa_start": 396,
"aa_end": null,
"aa_length": 437,
"cds_start": 1186,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640418.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1093A>G",
"hgvs_p": "p.Ser365Gly",
"transcript": "ENST00000639305.1",
"protein_id": "ENSP00000492244.1",
"transcript_support_level": 5,
"aa_start": 365,
"aa_end": null,
"aa_length": 406,
"cds_start": 1093,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639305.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1060A>G",
"hgvs_p": "p.Ser354Gly",
"transcript": "NM_001042437.2",
"protein_id": "NP_001035902.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 395,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042437.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1051A>G",
"hgvs_p": "p.Ser351Gly",
"transcript": "ENST00000928817.1",
"protein_id": "ENSP00000598876.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 392,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928817.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "NM_001354227.2",
"protein_id": "NP_001341156.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 4553,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354227.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "NM_001354229.2",
"protein_id": "NP_001341158.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354229.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "NM_001354238.1",
"protein_id": "NP_001341167.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354238.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "ENST00000638986.1",
"protein_id": "ENSP00000491853.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1265,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638986.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "ENST00000639432.1",
"protein_id": "ENSP00000491828.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639432.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "ENST00000640322.1",
"protein_id": "ENSP00000491564.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640322.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "ENST00000640982.1",
"protein_id": "ENSP00000492299.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640982.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1045A>G",
"hgvs_p": "p.Ser349Gly",
"transcript": "ENST00000640992.1",
"protein_id": "ENSP00000492753.1",
"transcript_support_level": 5,
"aa_start": 349,
"aa_end": null,
"aa_length": 390,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640992.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1009A>G",
"hgvs_p": "p.Ser337Gly",
"transcript": "ENST00000377332.8",
"protein_id": "ENSP00000366549.4",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 378,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377332.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL5",
"gene_hgnc_id": 10872,
"hgvs_c": "c.1006A>G",
"hgvs_p": "p.Ser336Gly",
"transcript": "ENST00000971695.1",
"protein_id": "ENSP00000641754.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 377,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1083,
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"clinvar_review_status": "criteria provided, conflicting classifications",
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"phenotype_combined": "GM3 synthase deficiency|not provided|Inborn genetic diseases",
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}
],
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}