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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: 17-5511718-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=5511718&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 5511718,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_001033053.3",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.821-5741T>G",
"hgvs_p": null,
"transcript": "ENST00000574512.1",
"protein_id": null,
"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": 4506,
"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": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4102+3755T>G",
"hgvs_p": null,
"transcript": "ENST00000699613.1",
"protein_id": "ENSP00000514477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1386,
"cds_start": -4,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4576,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4069+6028T>G",
"hgvs_p": null,
"transcript": "NM_001033053.3",
"protein_id": "NP_001028225.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": -4,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5098,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4069+6028T>G",
"hgvs_p": null,
"transcript": "ENST00000262467.11",
"protein_id": "ENSP00000262467.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": -4,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5107,
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.4057+6028T>G",
"hgvs_p": null,
"transcript": "ENST00000699710.1",
"protein_id": "ENSP00000514535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1371,
"cds_start": -4,
"cds_end": null,
"cds_length": 4116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4522,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3967+6028T>G",
"hgvs_p": null,
"transcript": "ENST00000699707.1",
"protein_id": "ENSP00000514532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1341,
"cds_start": -4,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4957,
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3925+6028T>G",
"hgvs_p": null,
"transcript": "ENST00000699614.1",
"protein_id": "ENSP00000514478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4417,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.3431-9846T>G",
"hgvs_p": null,
"transcript": "ENST00000699712.1",
"protein_id": "ENSP00000514537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3831,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.187+3755T>G",
"hgvs_p": null,
"transcript": "ENST00000699801.1",
"protein_id": "ENSP00000514604.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "c.142+6028T>G",
"hgvs_p": null,
"transcript": "ENST00000699800.1",
"protein_id": "ENSP00000514603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 129,
"cds_start": -4,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.4069+6028T>G",
"hgvs_p": null,
"transcript": "ENST00000544378.7",
"protein_id": "ENSP00000442029.2",
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
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"hgvs_c": "n.4048+6028T>G",
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"transcript": "ENST00000572143.2",
"protein_id": "ENSP00000514476.1",
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*32+6028T>G",
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"transcript": "ENST00000699612.1",
"protein_id": "ENSP00000514475.1",
"transcript_support_level": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
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"gene_symbol": "NLRP1",
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"hgvs_c": "n.*579+6028T>G",
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"transcript": "ENST00000699622.1",
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},
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],
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"hgvs_c": "n.4057+6028T>G",
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"transcript": "ENST00000699623.1",
"protein_id": "ENSP00000514483.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "NLRP1",
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"hgvs_c": "n.3297+6028T>G",
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},
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],
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"gene_symbol": "NLRP1",
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"hgvs_c": "n.*1367+6028T>G",
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"transcript": "ENST00000699625.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "NLRP1",
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"hgvs_c": "n.*2166+2673T>G",
"hgvs_p": null,
"transcript": "ENST00000699629.1",
"protein_id": "ENSP00000514488.1",
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},
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],
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"gene_symbol": "NLRP1",
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],
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],
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.1528+6028T>G",
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"transcript": "ENST00000699706.1",
"protein_id": "ENSP00000514531.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "NLRP1",
"gene_hgnc_id": 14374,
"hgvs_c": "n.*1494+6028T>G",
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"transcript": "ENST00000699708.1",
"protein_id": "ENSP00000514533.1",
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}
],
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}