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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: 18-12331502-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=12331502&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 12331502,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_006796.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2176-1719A>G",
"hgvs_p": null,
"transcript": "NM_006796.3",
"protein_id": "NP_006787.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": "ENST00000269143.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006796.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2176-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000269143.8",
"protein_id": "ENSP00000269143.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": "NM_006796.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269143.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2383-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889396.1",
"protein_id": "ENSP00000559455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 866,
"cds_start": null,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889396.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2320-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000964861.1",
"protein_id": "ENSP00000634920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": null,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3176,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964861.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2305-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889412.1",
"protein_id": "ENSP00000559471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": null,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889412.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2272-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000964858.1",
"protein_id": "ENSP00000634917.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": null,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964858.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2245-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889406.1",
"protein_id": "ENSP00000559465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": null,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889406.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2197-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889408.1",
"protein_id": "ENSP00000559467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": null,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889408.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2176-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000964852.1",
"protein_id": "ENSP00000634911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 797,
"cds_start": null,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964852.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2173-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889395.1",
"protein_id": "ENSP00000559454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": null,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2173-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000918897.1",
"protein_id": "ENSP00000588956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 796,
"cds_start": null,
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"cds_length": 2391,
"cdna_start": null,
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"cdna_length": 3188,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000918897.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2170-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889407.1",
"protein_id": "ENSP00000559466.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 795,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889407.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2167-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889398.1",
"protein_id": "ENSP00000559457.1",
"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": "ENST00000889398.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 16,
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"gene_symbol": "AFG3L2",
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"hgvs_c": "c.2125-1719A>G",
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"transcript": "ENST00000889400.1",
"protein_id": "ENSP00000559459.1",
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"biotype": "protein_coding",
"feature": "ENST00000889400.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2113-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000918900.1",
"protein_id": "ENSP00000588959.1",
"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": "ENST00000918900.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 16,
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"gene_symbol": "AFG3L2",
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"hgvs_c": "c.2113-1719A>G",
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"transcript": "ENST00000964853.1",
"protein_id": "ENSP00000634912.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000964853.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2101-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000691179.1",
"protein_id": "ENSP00000509010.1",
"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": "ENST00000691179.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2098-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889392.1",
"protein_id": "ENSP00000559451.1",
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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": null,
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"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2095-1719A>G",
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"protein_id": "ENSP00000559468.1",
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"feature": "ENST00000889409.1"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2095-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000964860.1",
"protein_id": "ENSP00000634919.1",
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"feature": "ENST00000964860.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2092-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000918901.1",
"protein_id": "ENSP00000588960.1",
"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,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "AFG3L2",
"gene_hgnc_id": 315,
"hgvs_c": "c.2065-1719A>G",
"hgvs_p": null,
"transcript": "ENST00000889393.1",
"protein_id": "ENSP00000559452.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": null,
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"cds_length": 2283,
"cdna_start": null,
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"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889393.1"
},
{
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"aa_alt": null,
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{
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"BA1"
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"verdict": "Benign",
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{
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"inheritance_mode": "Unknown",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}