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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: 14-30726664-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=30726664&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 30726664,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000458591.7",
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1836+4105C>A",
"hgvs_p": null,
"transcript": "NM_016106.4",
"protein_id": "NP_057190.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "ENST00000458591.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1836+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000458591.7",
"protein_id": "ENSP00000390783.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2190,
"mane_select": "NM_016106.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "n.*1306+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000556768.5",
"protein_id": "ENSP00000451811.1",
"transcript_support_level": 1,
"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": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1833+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000676509.1",
"protein_id": "ENSP00000504739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 641,
"cds_start": -4,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1770+4747C>A",
"hgvs_p": null,
"transcript": "ENST00000676658.1",
"protein_id": "ENSP00000503347.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
"cds_end": null,
"cds_length": 1863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1758+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000677340.1",
"protein_id": "ENSP00000504124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 616,
"cds_start": -4,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1746+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000676812.1",
"protein_id": "ENSP00000504504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 612,
"cds_start": -4,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1713+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000678402.1",
"protein_id": "ENSP00000503444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1686+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000678669.1",
"protein_id": "ENSP00000504126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 592,
"cds_start": -4,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1684-8126C>A",
"hgvs_p": null,
"transcript": "ENST00000679165.1",
"protein_id": "ENSP00000503787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
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"cds_length": 1776,
"cdna_start": null,
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"cdna_length": 1962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1659+4105C>A",
"hgvs_p": null,
"transcript": "NM_001283032.1",
"protein_id": "NP_001269961.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
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"gene_symbol": "SCFD1",
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"hgvs_c": "c.1635+4105C>A",
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"transcript": "NM_182835.2",
"protein_id": "NP_878255.1",
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 24,
"intron_rank": 22,
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"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1635+4105C>A",
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"transcript": "ENST00000544052.6",
"protein_id": "ENSP00000443010.2",
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},
{
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"strand": true,
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],
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"intron_rank": 22,
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"gene_symbol": "SCFD1",
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"hgvs_c": "c.1635+4105C>A",
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"transcript": "ENST00000678124.1",
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},
{
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],
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"gene_symbol": "SCFD1",
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"transcript": "ENST00000677413.1",
"protein_id": "ENSP00000503070.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1560+4105C>A",
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"transcript": "NM_001257376.1",
"protein_id": "NP_001244305.1",
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},
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],
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"intron_rank": 21,
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"gene_symbol": "SCFD1",
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"hgvs_c": "c.1560+4105C>A",
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"transcript": "ENST00000396629.6",
"protein_id": "ENSP00000379870.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1449+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000557076.6",
"protein_id": "ENSP00000450755.2",
"transcript_support_level": 3,
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},
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 21,
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"gene_symbol": "SCFD1",
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"hgvs_c": "c.1359+4105C>A",
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"transcript": "ENST00000676520.1",
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},
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],
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"gene_symbol": "SCFD1",
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"hgvs_c": "c.1359+4105C>A",
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},
{
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"strand": true,
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],
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"gene_symbol": "SCFD1",
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"hgvs_c": "c.1281+4105C>A",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1281+4105C>A",
"hgvs_p": null,
"transcript": "NM_001283033.1",
"protein_id": "NP_001269962.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "SCFD1",
"gene_hgnc_id": 20726,
"hgvs_c": "c.1281+4105C>A",
"hgvs_p": null,
"transcript": "ENST00000676674.1",
"protein_id": "ENSP00000502860.1",
"transcript_support_level": null,
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"cds_start": -4,
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