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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: 7-128957259-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128957259&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128957259,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000265388.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"transcript": "NM_012470.4",
"protein_id": "NP_036602.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 923,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 3109,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "ENST00000265388.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2768G>A",
"hgvs_p": "p.Arg923Gln",
"transcript": "ENST00000265388.10",
"protein_id": "ENSP00000265388.5",
"transcript_support_level": 1,
"aa_start": 923,
"aa_end": null,
"aa_length": 923,
"cds_start": 2768,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 3109,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": "NM_012470.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"transcript": "ENST00000471234.5",
"protein_id": "ENSP00000418646.1",
"transcript_support_level": 1,
"aa_start": 859,
"aa_end": null,
"aa_length": 859,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857Gln",
"transcript": "ENST00000482320.5",
"protein_id": "ENSP00000420089.1",
"transcript_support_level": 1,
"aa_start": 857,
"aa_end": null,
"aa_length": 857,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"transcript": "NM_001382216.1",
"protein_id": "NP_001369145.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 957,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 4447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"transcript": "ENST00000471166.1",
"protein_id": "ENSP00000418267.1",
"transcript_support_level": 5,
"aa_start": 957,
"aa_end": null,
"aa_length": 957,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 2983,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2870G>A",
"hgvs_p": "p.Arg957Gln",
"transcript": "ENST00000627585.2",
"protein_id": "ENSP00000487231.1",
"transcript_support_level": 2,
"aa_start": 957,
"aa_end": null,
"aa_length": 957,
"cds_start": 2870,
"cds_end": null,
"cds_length": 2874,
"cdna_start": 3273,
"cdna_end": null,
"cdna_length": 4514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2849G>A",
"hgvs_p": "p.Arg950Gln",
"transcript": "NM_001382217.1",
"protein_id": "NP_001369146.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 950,
"cds_start": 2849,
"cds_end": null,
"cds_length": 2853,
"cdna_start": 3190,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2660G>A",
"hgvs_p": "p.Arg887Gln",
"transcript": "NM_001382219.1",
"protein_id": "NP_001369148.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 887,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 4237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2627G>A",
"hgvs_p": "p.Arg876Gln",
"transcript": "NM_001382220.1",
"protein_id": "NP_001369149.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 876,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 2968,
"cdna_end": null,
"cdna_length": 4204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2624G>A",
"hgvs_p": "p.Arg875Gln",
"transcript": "NM_001382221.1",
"protein_id": "NP_001369150.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 875,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 2965,
"cdna_end": null,
"cdna_length": 4201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2621G>A",
"hgvs_p": "p.Arg874Gln",
"transcript": "NM_001382222.1",
"protein_id": "NP_001369151.1",
"transcript_support_level": null,
"aa_start": 874,
"aa_end": null,
"aa_length": 874,
"cds_start": 2621,
"cds_end": null,
"cds_length": 2625,
"cdna_start": 2962,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2576G>A",
"hgvs_p": "p.Arg859Gln",
"transcript": "NM_001191028.3",
"protein_id": "NP_001177957.2",
"transcript_support_level": null,
"aa_start": 859,
"aa_end": null,
"aa_length": 859,
"cds_start": 2576,
"cds_end": null,
"cds_length": 2580,
"cdna_start": 2917,
"cdna_end": null,
"cdna_length": 4153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857Gln",
"transcript": "XM_047420091.1",
"protein_id": "XP_047276047.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 857,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 3008,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "c.2570G>A",
"hgvs_p": "p.Arg857Gln",
"transcript": "XM_047420092.1",
"protein_id": "XP_047276048.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 857,
"cds_start": 2570,
"cds_end": null,
"cds_length": 2574,
"cdna_start": 8931,
"cdna_end": null,
"cdna_length": 10167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3270G>A",
"hgvs_p": null,
"transcript": "NR_034053.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3357G>A",
"hgvs_p": null,
"transcript": "NR_167911.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3215G>A",
"hgvs_p": null,
"transcript": "NR_167912.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3017G>A",
"hgvs_p": null,
"transcript": "NR_167913.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3177G>A",
"hgvs_p": null,
"transcript": "NR_167914.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.3433G>A",
"hgvs_p": null,
"transcript": "NR_167915.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.2907G>A",
"hgvs_p": null,
"transcript": "NR_167916.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNPO3",
"gene_hgnc_id": 17103,
"hgvs_c": "n.2940G>A",
"hgvs_p": null,
"transcript": "NR_167917.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Autosomal dominant limb-girdle muscular dystrophy type 1F",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}