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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: 3-24127645-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24127645&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 24127645,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000461.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001354712.2",
"protein_id": "NP_001341641.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": "ENST00000646209.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354712.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000646209.2",
"protein_id": "ENSP00000496686.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": "NM_001354712.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646209.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000356447.9",
"protein_id": "ENSP00000348827.4",
"transcript_support_level": 1,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356447.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.Glu348Gly",
"transcript": "ENST00000280696.9",
"protein_id": "ENSP00000280696.5",
"transcript_support_level": 5,
"aa_start": 348,
"aa_end": null,
"aa_length": 476,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280696.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_000461.5",
"protein_id": "NP_000452.2",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 7430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000461.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001128176.3",
"protein_id": "NP_001121648.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128176.3"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001128177.2",
"protein_id": "NP_001121649.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128177.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001252634.2",
"protein_id": "NP_001239563.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 7665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252634.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001354708.2",
"protein_id": "NP_001341637.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1688,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354708.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001354709.2",
"protein_id": "NP_001341638.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1225,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354709.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001354710.2",
"protein_id": "NP_001341639.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354710.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001354711.2",
"protein_id": "NP_001341640.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1168,
"cdna_end": null,
"cdna_length": 7287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354711.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001354713.2",
"protein_id": "NP_001341642.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354713.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001374822.1",
"protein_id": "NP_001361751.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 7366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374822.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001374823.1",
"protein_id": "NP_001361752.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374823.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001374824.1",
"protein_id": "NP_001361753.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 7671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374824.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001374825.1",
"protein_id": "NP_001361754.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1259,
"cdna_end": null,
"cdna_length": 7378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374825.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "NM_001374826.1",
"protein_id": "NP_001361755.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
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"cds_length": 1386,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 7532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374826.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000396671.7",
"protein_id": "ENSP00000379904.2",
"transcript_support_level": 5,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
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"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 7402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396671.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000416420.5",
"protein_id": "ENSP00000414444.1",
"transcript_support_level": 2,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
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"cdna_start": 1507,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416420.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000642307.1",
"protein_id": "ENSP00000494618.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 5444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642307.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Glu333Gly",
"transcript": "ENST00000643772.1",
"protein_id": "ENSP00000496029.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 461,
"cds_start": 998,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 5592,
"mane_select": null,
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{
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],
"gene_symbol": "THRB",
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"dbsnp": "rs1553611019",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.8501356244087219,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.742,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6667,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.988,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.17,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
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"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000461.5",
"gene_symbol": "THRB",
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"effects": [
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],
"inheritance_mode": "SD,AR,AD",
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],
"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
}