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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: 14-71590638-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=71590638&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 71590638,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000381232.8",
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001386936.1",
"protein_id": "NP_001373865.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": -4,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": "ENST00000381232.8",
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "ENST00000381232.8",
"protein_id": "ENSP00000370630.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": -4,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7952,
"mane_select": "NM_001386936.1",
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "ENST00000555818.5",
"protein_id": "ENSP00000450832.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": -4,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7831,
"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": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001354285.2",
"protein_id": "NP_001341214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": -4,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8015,
"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": 27,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_015556.4",
"protein_id": "NP_056371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1804,
"cds_start": -4,
"cds_end": null,
"cds_length": 5415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8149,
"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": 24,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001284247.3",
"protein_id": "NP_001271176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1803,
"cds_start": -4,
"cds_end": null,
"cds_length": 5412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8343,
"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": 26,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001284245.3",
"protein_id": "NP_001271174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1783,
"cds_start": -4,
"cds_end": null,
"cds_length": 5352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8061,
"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": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001284246.2",
"protein_id": "NP_001271175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8330,
"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": 25,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001354286.2",
"protein_id": "NP_001341215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8016,
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001354287.2",
"protein_id": "NP_001341216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
"cds_end": null,
"cds_length": 5349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7949,
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "NM_001354288.2",
"protein_id": "NP_001341217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 7998,
"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,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "ENST00000358550.6",
"protein_id": "ENSP00000351352.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1782,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.17-28119G>A",
"hgvs_p": null,
"transcript": "NM_001354289.2",
"protein_id": "NP_001341218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cds_length": 3867,
"cdna_start": null,
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"mane_select": 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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_005267516.5",
"protein_id": "XP_005267573.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 25,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_011536632.2",
"protein_id": "XP_011534934.1",
"transcript_support_level": null,
"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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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_024449529.2",
"protein_id": "XP_024305297.1",
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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": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431209.1",
"protein_id": "XP_047287165.1",
"transcript_support_level": null,
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"mane_select": null,
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"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": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431211.1",
"protein_id": "XP_047287167.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": 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": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431212.1",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431213.1",
"protein_id": "XP_047287169.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
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"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431214.1",
"protein_id": "XP_047287170.1",
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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,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431215.1",
"protein_id": "XP_047287171.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9900,
"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": 28,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SIPA1L1",
"gene_hgnc_id": 20284,
"hgvs_c": "c.1498+1268G>A",
"hgvs_p": null,
"transcript": "XM_047431216.1",
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