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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: 17-72830265-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=72830265&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 72830265,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000255559.8",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "NM_139177.4",
"protein_id": "NP_631916.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": "ENST00000255559.8",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "ENST00000255559.8",
"protein_id": "ENSP00000255559.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2732,
"mane_select": "NM_139177.4",
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "NM_001159770.2",
"protein_id": "NP_001153242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2753,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "NM_001352692.2",
"protein_id": "NP_001339621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2869,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "ENST00000542342.6",
"protein_id": "ENSP00000445829.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 342,
"cds_start": -4,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2752,
"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": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "NM_001352691.2",
"protein_id": "NP_001339620.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3141,
"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": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "NM_001352693.2",
"protein_id": "NP_001339622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2848,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.349+19369C>T",
"hgvs_p": null,
"transcript": "ENST00000582769.5",
"protein_id": "ENSP00000463467.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 567,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.170-8243C>T",
"hgvs_p": null,
"transcript": "ENST00000583715.5",
"protein_id": "ENSP00000462332.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 589,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.73+19369C>T",
"hgvs_p": null,
"transcript": "ENST00000581581.1",
"protein_id": "ENSP00000463083.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "n.143-12330C>T",
"hgvs_p": null,
"transcript": "ENST00000579319.1",
"protein_id": "ENSP00000463822.1",
"transcript_support_level": 3,
"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": 439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "n.416-6382C>T",
"hgvs_p": null,
"transcript": "ENST00000579491.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "n.*307-6382C>T",
"hgvs_p": null,
"transcript": "ENST00000584129.1",
"protein_id": "ENSP00000464302.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "XM_006721755.3",
"protein_id": "XP_006721818.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "XM_011524493.2",
"protein_id": "XP_011522795.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 342,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "XM_011524494.2",
"protein_id": "XP_011522796.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 7,
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"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "XM_017024330.2",
"protein_id": "XP_016879819.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 335,
"cds_start": -4,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "XM_017024332.1",
"protein_id": "XP_016879821.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 335,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2755,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "XM_006721756.4",
"protein_id": "XP_006721819.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
"hgvs_p": null,
"transcript": "XM_047435565.1",
"protein_id": "XP_047291521.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.622+19369C>T",
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"transcript": "XM_047435566.1",
"protein_id": "XP_047291522.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.472+19369C>T",
"hgvs_p": null,
"transcript": "XM_017024333.2",
"protein_id": "XP_016879822.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 292,
"cds_start": -4,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
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"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SLC39A11",
"gene_hgnc_id": 14463,
"hgvs_c": "c.601+19369C>T",
"hgvs_p": null,
"transcript": "XM_047435568.1",
"protein_id": "XP_047291524.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 289,
"cds_start": -4,
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