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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: 15-84888808-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=84888808&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 84888808,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004213.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "NM_004213.5",
"protein_id": "NP_004204.3",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 649,
"cds_start": 133,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "ENST00000394573.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "ENST00000394573.6",
"protein_id": "ENSP00000378074.1",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 649,
"cds_start": 133,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": "NM_004213.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "ENST00000286749.3",
"protein_id": "ENSP00000286749.3",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 649,
"cds_start": 133,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "ENST00000338602.6",
"protein_id": "ENSP00000341629.2",
"transcript_support_level": 1,
"aa_start": 45,
"aa_end": null,
"aa_length": 175,
"cds_start": 133,
"cds_end": null,
"cds_length": 528,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "NM_001287762.2",
"protein_id": "NP_001274691.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 649,
"cds_start": 133,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 2654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "NM_001321722.2",
"protein_id": "NP_001308651.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 636,
"cds_start": 133,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "NM_001321721.2",
"protein_id": "NP_001308650.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 543,
"cds_start": 133,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "NM_001287761.2",
"protein_id": "NP_001274690.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 483,
"cds_start": 133,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "ENST00000538177.5",
"protein_id": "ENSP00000443752.1",
"transcript_support_level": 2,
"aa_start": 45,
"aa_end": null,
"aa_length": 483,
"cds_start": 133,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "NM_201651.3",
"protein_id": "NP_964014.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 175,
"cds_start": 133,
"cds_end": null,
"cds_length": 528,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522203.3",
"protein_id": "XP_011520505.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 692,
"cds_start": 133,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522204.4",
"protein_id": "XP_011520506.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 692,
"cds_start": 133,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 2667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522205.4",
"protein_id": "XP_011520507.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 692,
"cds_start": 133,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 440,
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"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522206.4",
"protein_id": "XP_011520508.1",
"transcript_support_level": null,
"aa_start": 45,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_047433320.1",
"protein_id": "XP_047289276.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 692,
"cds_start": 133,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 2295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522209.3",
"protein_id": "XP_011520511.1",
"transcript_support_level": null,
"aa_start": 45,
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"cds_start": 133,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522210.3",
"protein_id": "XP_011520512.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 648,
"cds_start": 133,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_017022723.2",
"protein_id": "XP_016878212.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 633,
"cds_start": 133,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522212.2",
"protein_id": "XP_011520514.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
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"cds_start": 133,
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"cdna_start": 355,
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"feature": null
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522214.3",
"protein_id": "XP_011520516.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
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"cds_start": 133,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522215.3",
"protein_id": "XP_011520517.1",
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"aa_start": 45,
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"aa_length": 526,
"cds_start": 133,
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"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_011522217.2",
"protein_id": "XP_011520519.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 483,
"cds_start": 133,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC28A1",
"gene_hgnc_id": 11001,
"hgvs_c": "c.133G>T",
"hgvs_p": "p.Ala45Ser",
"transcript": "XM_047433322.1",
"protein_id": "XP_047289278.1",
"transcript_support_level": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004213.5",
"gene_symbol": "SLC28A1",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}