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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: 1-183546293-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183546293&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 183546293,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000688051.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2698G>A",
"hgvs_p": "p.Val900Ile",
"transcript": "NM_001375584.1",
"protein_id": "NP_001362513.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": "ENST00000688051.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2698G>A",
"hgvs_p": "p.Val900Ile",
"transcript": "ENST00000688051.1",
"protein_id": "ENSP00000510175.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2820,
"cdna_end": null,
"cdna_length": 5946,
"mane_select": "NM_001375584.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "ENST00000507469.5",
"protein_id": "ENSP00000425133.1",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2678,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2698G>A",
"hgvs_p": "p.Val900Ile",
"transcript": "ENST00000347615.6",
"protein_id": "ENSP00000340766.2",
"transcript_support_level": 1,
"aa_start": 900,
"aa_end": null,
"aa_length": 1137,
"cds_start": 2698,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 2817,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "ENST00000515829.6",
"protein_id": "ENSP00000421358.2",
"transcript_support_level": 1,
"aa_start": 854,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2654,
"cdna_end": null,
"cdna_length": 5629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Ile",
"transcript": "NM_001350220.2",
"protein_id": "NP_001337149.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3096,
"cdna_end": null,
"cdna_length": 6222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Ile",
"transcript": "NM_001394133.1",
"protein_id": "NP_001381062.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Ile",
"transcript": "ENST00000685780.1",
"protein_id": "ENSP00000508915.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 1216,
"cds_start": 2785,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 6204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2560G>A",
"hgvs_p": "p.Val854Ile",
"transcript": "NM_201569.3",
"protein_id": "NP_963863.2",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 1178,
"cds_start": 2560,
"cds_end": null,
"cds_length": 3537,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 4649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Ile",
"transcript": "NM_001331007.2",
"protein_id": "NP_001317936.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2647,
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"cds_length": 3513,
"cdna_start": 2821,
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"cdna_length": 5947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Ile",
"transcript": "NM_001350221.2",
"protein_id": "NP_001337150.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2647,
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"cdna_start": 2958,
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},
{
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"consequences": [
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],
"exon_rank": 18,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "SMG7",
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"hgvs_p": "p.Val883Ile",
"transcript": "ENST00000367537.7",
"protein_id": "ENSP00000356507.3",
"transcript_support_level": 5,
"aa_start": 883,
"aa_end": null,
"aa_length": 1170,
"cds_start": 2647,
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"cdna_start": 2842,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "SMG7",
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"hgvs_p": "p.Val929Ile",
"transcript": "NM_001394134.1",
"protein_id": "NP_001381063.1",
"transcript_support_level": null,
"aa_start": 929,
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"aa_length": 1166,
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"cdna_start": 3274,
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},
{
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],
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "SMG7",
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"transcript": "NM_001394135.1",
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},
{
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"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2785G>A",
"hgvs_p": "p.Val929Ile",
"transcript": "NM_001394136.1",
"protein_id": "NP_001381065.1",
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"aa_start": 929,
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},
{
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],
"exon_rank": 16,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "SMG7",
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"hgvs_c": "c.2572G>A",
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"transcript": "NM_001174061.2",
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},
{
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],
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"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Val858Ile",
"transcript": "NM_001394137.1",
"protein_id": "NP_001381066.1",
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},
{
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"strand": true,
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2572G>A",
"hgvs_p": "p.Val858Ile",
"transcript": "ENST00000508461.5",
"protein_id": "ENSP00000426915.1",
"transcript_support_level": 2,
"aa_start": 858,
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},
{
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"gene_symbol": "SMG7",
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"transcript": "NM_001375585.1",
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},
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"intron_rank": null,
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"gene_symbol": "SMG7",
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"hgvs_p": "p.Val900Ile",
"transcript": "NM_173156.3",
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},
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],
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"gene_symbol": "SMG7",
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"hgvs_p": "p.Val883Ile",
"transcript": "NM_001350219.2",
"protein_id": "NP_001337148.1",
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"aa_start": 883,
"aa_end": null,
"aa_length": 1120,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SMG7",
"gene_hgnc_id": 16792,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Val883Ile",
"transcript": "NM_001394138.1",
"protein_id": "NP_001381067.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1120,
"cds_start": 2647,
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"cdna_start": 3136,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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