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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: 16-24890980-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=24890980&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 24890980,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001352242.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.His259Arg",
"transcript": "NM_001352248.3",
"protein_id": "NP_001339177.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 675,
"cds_start": 776,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000424767.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352248.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.His259Arg",
"transcript": "ENST00000424767.7",
"protein_id": "ENSP00000416782.3",
"transcript_support_level": 2,
"aa_start": 259,
"aa_end": null,
"aa_length": 675,
"cds_start": 776,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352248.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424767.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.His259Arg",
"transcript": "ENST00000347898.7",
"protein_id": "ENSP00000289932.3",
"transcript_support_level": 1,
"aa_start": 259,
"aa_end": null,
"aa_length": 675,
"cds_start": 776,
"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": "ENST00000347898.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.His195Arg",
"transcript": "ENST00000565769.5",
"protein_id": "ENSP00000457179.1",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 611,
"cds_start": 584,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565769.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.His259Arg",
"transcript": "NM_001352242.2",
"protein_id": "NP_001339171.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 675,
"cds_start": 776,
"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": "NM_001352242.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.737A>G",
"hgvs_p": "p.His246Arg",
"transcript": "NM_001352235.2",
"protein_id": "NP_001339164.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 662,
"cds_start": 737,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352235.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.716A>G",
"hgvs_p": "p.His239Arg",
"transcript": "ENST00000899689.1",
"protein_id": "ENSP00000569748.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 655,
"cds_start": 716,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899689.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.His232Arg",
"transcript": "NM_001352250.2",
"protein_id": "NP_001339179.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 648,
"cds_start": 695,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352250.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.695A>G",
"hgvs_p": "p.His232Arg",
"transcript": "NM_001394076.1",
"protein_id": "NP_001381005.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 648,
"cds_start": 695,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394076.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.His224Arg",
"transcript": "NM_001258411.3",
"protein_id": "NP_001245340.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 640,
"cds_start": 671,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258411.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.His224Arg",
"transcript": "NM_001352238.2",
"protein_id": "NP_001339167.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 640,
"cds_start": 671,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352238.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.His224Arg",
"transcript": "ENST00000567758.6",
"protein_id": "ENSP00000454401.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 640,
"cds_start": 671,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567758.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.671A>G",
"hgvs_p": "p.His224Arg",
"transcript": "ENST00000899690.1",
"protein_id": "ENSP00000569749.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 640,
"cds_start": 671,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899690.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.611A>G",
"hgvs_p": "p.His204Arg",
"transcript": "ENST00000960822.1",
"protein_id": "ENSP00000630881.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 620,
"cds_start": 611,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960822.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.His197Arg",
"transcript": "NM_001394077.1",
"protein_id": "NP_001381006.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 613,
"cds_start": 590,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394077.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.His195Arg",
"transcript": "NM_001258413.3",
"protein_id": "NP_001245342.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 611,
"cds_start": 584,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258413.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.His195Arg",
"transcript": "NM_001352236.2",
"protein_id": "NP_001339165.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 611,
"cds_start": 584,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352236.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.His195Arg",
"transcript": "NM_001352249.2",
"protein_id": "NP_001339178.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 611,
"cds_start": 584,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352249.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.His195Arg",
"transcript": "NM_001352259.2",
"protein_id": "NP_001339188.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 611,
"cds_start": 584,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352259.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.His189Arg",
"transcript": "NM_001258412.3",
"protein_id": "NP_001245341.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 605,
"cds_start": 566,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258412.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.His189Arg",
"transcript": "ENST00000568579.6",
"protein_id": "ENSP00000456234.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 605,
"cds_start": 566,
"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": "ENST00000568579.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A11",
"gene_hgnc_id": 23091,
"hgvs_c": "c.479A>G",
"hgvs_p": "p.His160Arg",
"transcript": "NM_001352237.2",
"protein_id": "NP_001339166.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 576,
"cds_start": 479,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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{
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],
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"dbsnp": "rs966595669",
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"hom_count_reference_population": 0,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.9559340476989746,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.906,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.213,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001352242.2",
"gene_symbol": "SLC5A11",
"hgnc_id": 23091,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.776A>G",
"hgvs_p": "p.His259Arg"
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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
}