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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: 18-54933466-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54933466&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 54933466,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_025214.3",
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "NM_025214.3",
"protein_id": "NP_079490.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "ENST00000591504.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025214.3"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000591504.6",
"protein_id": "ENSP00000466690.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": "NM_025214.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591504.6"
},
{
"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": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000432185.5",
"protein_id": "ENSP00000413406.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432185.5"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "NM_001143829.2",
"protein_id": "NP_001137301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143829.2"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000337363.8",
"protein_id": "ENSP00000337209.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337363.8"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878530.1",
"protein_id": "ENSP00000548589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878530.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878532.1",
"protein_id": "ENSP00000548591.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878532.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878533.1",
"protein_id": "ENSP00000548592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878533.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878536.1",
"protein_id": "ENSP00000548595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878536.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878540.1",
"protein_id": "ENSP00000548599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878540.1"
},
{
"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": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000971901.1",
"protein_id": "ENSP00000641960.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971901.1"
},
{
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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": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000971902.1",
"protein_id": "ENSP00000641961.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971902.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000971903.1",
"protein_id": "ENSP00000641962.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971903.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000971904.1",
"protein_id": "ENSP00000641963.1",
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"biotype": "protein_coding",
"feature": "ENST00000971904.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000971906.1",
"protein_id": "ENSP00000641965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971906.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.579+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878538.1",
"protein_id": "ENSP00000548597.1",
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"biotype": "protein_coding",
"feature": "ENST00000878538.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.600+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000971905.1",
"protein_id": "ENSP00000641964.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 320,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971905.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.459+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878531.1",
"protein_id": "ENSP00000548590.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 288,
"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": "ENST00000878531.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.459+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878534.1",
"protein_id": "ENSP00000548593.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
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"hgvs_c": "c.459+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878535.1",
"protein_id": "ENSP00000548594.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.459+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878537.1",
"protein_id": "ENSP00000548596.1",
"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": "ENST00000878537.1"
},
{
"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": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CCDC68",
"gene_hgnc_id": 24350,
"hgvs_c": "c.459+1354A>G",
"hgvs_p": null,
"transcript": "ENST00000878539.1",
"protein_id": "ENSP00000548598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": null,
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"cds_length": 867,
"cdna_start": null,
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"cdna_length": 2416,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878539.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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