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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: 3-24127696-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=24127696&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 24127696,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000646209.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001354712.2",
"protein_id": "NP_001341641.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": "ENST00000646209.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000646209.2",
"protein_id": "ENSP00000496686.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 7576,
"mane_select": "NM_001354712.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000356447.9",
"protein_id": "ENSP00000348827.4",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1324,
"cdna_end": null,
"cdna_length": 6433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.992G>A",
"hgvs_p": "p.Arg331His",
"transcript": "ENST00000280696.9",
"protein_id": "ENSP00000280696.5",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 476,
"cds_start": 992,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_000461.5",
"protein_id": "NP_000452.2",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1260,
"cdna_end": null,
"cdna_length": 7430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001128176.3",
"protein_id": "NP_001121648.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 7541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001128177.2",
"protein_id": "NP_001121649.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001252634.2",
"protein_id": "NP_001239563.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 7665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001354708.2",
"protein_id": "NP_001341637.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1637,
"cdna_end": null,
"cdna_length": 7807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001354709.2",
"protein_id": "NP_001341638.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001354710.2",
"protein_id": "NP_001341639.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 7433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001354711.2",
"protein_id": "NP_001341640.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
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"cds_length": 1386,
"cdna_start": 1117,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001354713.2",
"protein_id": "NP_001341642.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
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"cdna_start": 1225,
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"cdna_length": 7395,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001374822.1",
"protein_id": "NP_001361751.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001374823.1",
"protein_id": "NP_001361752.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
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"cdna_start": 1328,
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"cdna_length": 7498,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001374824.1",
"protein_id": "NP_001361753.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001374825.1",
"protein_id": "NP_001361754.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 947,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "NM_001374826.1",
"protein_id": "NP_001361755.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
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"cds_start": 947,
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"cdna_start": 1362,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "THRB",
"gene_hgnc_id": 11799,
"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000396671.7",
"protein_id": "ENSP00000379904.2",
"transcript_support_level": 5,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 11,
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"intron_rank": null,
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"gene_symbol": "THRB",
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"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000416420.5",
"protein_id": "ENSP00000414444.1",
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},
{
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"consequences": [
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],
"exon_rank": 9,
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"gene_symbol": "THRB",
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"hgvs_c": "c.947G>A",
"hgvs_p": "p.Arg316His",
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"protein_id": "ENSP00000494618.1",
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000643772.1",
"protein_id": "ENSP00000496029.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 461,
"cds_start": 947,
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"cds_length": 1386,
"cdna_start": 1325,
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"cdna_length": 5592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "H",
"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.947G>A",
"hgvs_p": "p.Arg316His",
"transcript": "ENST00000644321.1",
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"phenotype_combined": "Selective pituitary resistance to thyroid hormone|Thyroid hormone resistance, generalized, autosomal dominant|not provided",
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}
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}