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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: 9-2173296-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=2173296&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 2173296,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_003070.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "NM_003070.5",
"protein_id": "NP_003061.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349721.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003070.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "ENST00000349721.8",
"protein_id": "ENSP00000265773.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003070.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349721.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "ENST00000382203.5",
"protein_id": "ENSP00000371638.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382203.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4026-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000450198.6",
"protein_id": "ENSP00000392081.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1514,
"cds_start": null,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450198.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.264-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000634781.1",
"protein_id": "ENSP00000489302.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 260,
"cds_start": null,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000634781.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "NM_001289396.2",
"protein_id": "NP_001276325.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289396.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "ENST00000866697.1",
"protein_id": "ENSP00000536756.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866697.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "ENST00000915468.1",
"protein_id": "ENSP00000585527.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915468.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4253+2824G>T",
"hgvs_p": null,
"transcript": "ENST00000953439.1",
"protein_id": "ENSP00000623498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1590,
"cds_start": null,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953439.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4200-8275G>T",
"hgvs_p": null,
"transcript": "NM_139045.4",
"protein_id": "NP_620614.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": null,
"cds_end": null,
"cds_length": 4719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139045.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4200-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000357248.8",
"protein_id": "ENSP00000349788.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1572,
"cds_start": 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": "ENST00000357248.8"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4200-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000382194.6",
"protein_id": "ENSP00000371629.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000382194.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4200-8275G>T",
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"transcript": "ENST00000866695.1",
"protein_id": "ENSP00000536754.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "SMARCA2",
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"hgvs_c": "c.4200-8275G>T",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4200-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000866698.1",
"protein_id": "ENSP00000536757.1",
"transcript_support_level": null,
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"cds_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000866698.1"
},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
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"hgvs_c": "c.4200-8275G>T",
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"transcript": "ENST00000953438.1",
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"biotype": "protein_coding",
"feature": "ENST00000953438.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.4026-8275G>T",
"hgvs_p": null,
"transcript": "NM_001289397.2",
"protein_id": "NP_001276326.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001289397.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.3840-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000704350.1",
"protein_id": "ENSP00000515861.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
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],
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"exon_count": 23,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
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"hgvs_c": "c.2562-8275G>T",
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"transcript": "ENST00000704355.1",
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1445+2824G>T",
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"transcript": "ENST00000704353.1",
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},
{
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"strand": true,
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],
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.1392-8275G>T",
"hgvs_p": null,
"transcript": "ENST00000704352.1",
"protein_id": "ENSP00000515863.1",
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"aa_length": 636,
"cds_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704352.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SMARCA2",
"gene_hgnc_id": 11098,
"hgvs_c": "c.318-8275G>T",
"hgvs_p": null,
"transcript": "NM_001289400.2",
"protein_id": "NP_001276329.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001289400.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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}