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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: 3-49889180-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49889180&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49889180,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_002447.4",
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3947+744G>A",
"hgvs_p": null,
"transcript": "NM_002447.4",
"protein_id": "NP_002438.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "ENST00000296474.8",
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3947+744G>A",
"hgvs_p": null,
"transcript": "ENST00000296474.8",
"protein_id": "ENSP00000296474.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1400,
"cds_start": -4,
"cds_end": null,
"cds_length": 4203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": "NM_002447.4",
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3629+744G>A",
"hgvs_p": null,
"transcript": "ENST00000621387.4",
"protein_id": "ENSP00000482642.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": -4,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4449,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3800+744G>A",
"hgvs_p": null,
"transcript": "NM_001244937.3",
"protein_id": "NP_001231866.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1351,
"cds_start": -4,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4625,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3800+744G>A",
"hgvs_p": null,
"transcript": "ENST00000344206.8",
"protein_id": "ENSP00000341325.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1351,
"cds_start": -4,
"cds_end": null,
"cds_length": 4056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4198,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3740+744G>A",
"hgvs_p": null,
"transcript": "NM_001437543.1",
"protein_id": "NP_001424472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": -4,
"cds_end": null,
"cds_length": 3996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4565,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3740+744G>A",
"hgvs_p": null,
"transcript": "ENST00000434765.6",
"protein_id": "ENSP00000393294.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1331,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4565,
"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": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3692+744G>A",
"hgvs_p": null,
"transcript": "ENST00000440292.2",
"protein_id": "ENSP00000414792.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 1315,
"cds_start": -4,
"cds_end": null,
"cds_length": 3948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4517,
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "c.3629+744G>A",
"hgvs_p": null,
"transcript": "NM_001318913.2",
"protein_id": "NP_001305842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1294,
"cds_start": -4,
"cds_end": null,
"cds_length": 3885,
"cdna_start": null,
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"cdna_length": 4454,
"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,
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"exon_count": 19,
"intron_rank": 18,
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"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*769+744G>A",
"hgvs_p": null,
"transcript": "ENST00000411578.6",
"protein_id": "ENSP00000407926.2",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
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"gene_symbol": "MST1R",
"gene_hgnc_id": 7381,
"hgvs_c": "n.*1741+744G>A",
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"transcript": "ENST00000714251.1",
"protein_id": "ENSP00000519532.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ENSG00000295244",
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"hgvs_c": "n.320-229C>T",
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"transcript": "ENST00000728776.1",
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},
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],
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"gene_symbol": "MST1R",
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"hgvs_c": "n.4147+744G>A",
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"transcript": "NR_134919.2",
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],
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},
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],
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"gene_symbol": "MST1R",
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"gene_symbol": "MST1R",
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"hgvs_c": "c.3827+744G>A",
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},
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],
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"gene_symbol": "MST1R",
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"hgvs_c": "c.3803+744G>A",
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"transcript": "XM_011533740.3",
"protein_id": "XP_011532042.1",
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},
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],
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"gene_symbol": "MST1R",
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],
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"consequences": [
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],
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"gene_symbol": "MST1R",
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"hgvs_c": "c.3648-1618G>A",
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"transcript": "XM_011533743.3",
"protein_id": "XP_011532045.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
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"gene_symbol": "MST1R",
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"hgvs_c": "c.3645-1618G>A",
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"transcript": "XM_047448165.1",
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}