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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: 18-45741304-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=45741304&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 45741304,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000321925.9",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.946+1642A>G",
"hgvs_p": null,
"transcript": "NM_015865.7",
"protein_id": "NP_056949.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": "ENST00000321925.9",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.946+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000321925.9",
"protein_id": "ENSP00000318546.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3917,
"mane_select": "NM_015865.7",
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.946+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000586142.5",
"protein_id": "ENSP00000470476.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2846,
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.798+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000589700.5",
"protein_id": "ENSP00000465044.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 302,
"cds_start": -4,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1022,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.550+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000535474.5",
"protein_id": "ENSP00000441998.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": -4,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1048,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1114+1642A>G",
"hgvs_p": null,
"transcript": "NM_001128588.4",
"protein_id": "NP_001122060.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4075,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1114+1642A>G",
"hgvs_p": null,
"transcript": "NM_001146037.1",
"protein_id": "NP_001139509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4226,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1114+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000415427.7",
"protein_id": "ENSP00000412309.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1554,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1114+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000436407.7",
"protein_id": "ENSP00000390637.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2264,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.1114+1642A>G",
"hgvs_p": null,
"transcript": "NM_001439164.1",
"protein_id": "NP_001426093.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1675,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.946+1642A>G",
"hgvs_p": null,
"transcript": "NM_001146036.3",
"protein_id": "NP_001139508.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
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"cds_length": 1170,
"cdna_start": null,
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"cdna_length": 4004,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.946+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000586951.6",
"protein_id": "ENSP00000465702.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.798+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000619403.4",
"protein_id": "ENSP00000479595.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 302,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.631+1642A>G",
"hgvs_p": null,
"transcript": "NM_001308278.2",
"protein_id": "NP_001295207.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 7,
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"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.631+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000402943.6",
"protein_id": "ENSP00000385320.2",
"transcript_support_level": 2,
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.550+1642A>G",
"hgvs_p": null,
"transcript": "NM_001308279.2",
"protein_id": "NP_001295208.1",
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},
{
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],
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"intron_rank": 5,
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"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.550+1642A>G",
"hgvs_p": null,
"transcript": "NM_001439165.1",
"protein_id": "NP_001426094.1",
"transcript_support_level": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.550+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000589322.7",
"protein_id": "ENSP00000466273.3",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 257,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "c.384+4656A>G",
"hgvs_p": null,
"transcript": "ENST00000590377.1",
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},
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"strand": true,
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],
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
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"hgvs_c": "n.*299+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000502059.7",
"protein_id": "ENSP00000442180.2",
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"aa_start": 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": 4,
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"gene_symbol": "ENSG00000288545",
"gene_hgnc_id": null,
"hgvs_c": "n.533-3710T>C",
"hgvs_p": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "n.*276+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000588179.6",
"protein_id": "ENSP00000467898.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC14A1",
"gene_hgnc_id": 10918,
"hgvs_c": "n.161+1642A>G",
"hgvs_p": null,
"transcript": "ENST00000591541.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
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}