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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: 12-75074116-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75074116&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 75074116,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000549446.6",
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "NM_139137.4",
"protein_id": "NP_631875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "ENST00000549446.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "ENST00000549446.6",
"protein_id": "ENSP00000449253.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5596,
"mane_select": "NM_139137.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "ENST00000550433.5",
"protein_id": "ENSP00000448301.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "ENST00000393288.2",
"protein_id": "ENSP00000376966.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 618,
"cds_start": -4,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "ENST00000548513.5",
"protein_id": "ENSP00000449941.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 613,
"cds_start": -4,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "NM_001414192.1",
"protein_id": "NP_001401121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
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"cdna_length": 4965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "NM_001260498.2",
"protein_id": "NP_001247427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
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"cdna_start": 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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "NM_001414193.1",
"protein_id": "NP_001401122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": -4,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KCNC2",
"gene_hgnc_id": 6234,
"hgvs_c": "c.688-22799A>G",
"hgvs_p": null,
"transcript": "NM_001414194.1",
"protein_id": "NP_001401123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 621,
"cds_start": -4,
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"cds_length": 1866,
"cdna_start": null,
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"cdna_length": 5545,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"gene_symbol": "KCNC2",
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"hgvs_c": "c.688-22799A>G",
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"transcript": "NM_001260497.2",
"protein_id": "NP_001247426.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "KCNC2",
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"hgvs_c": "c.688-22799A>G",
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"transcript": "NM_001414195.1",
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},
{
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],
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},
{
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],
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},
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],
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],
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},
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],
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},
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],
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],
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},
{
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],
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