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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: 3-151294753-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=151294753&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 151294753,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_023915.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR87",
"gene_hgnc_id": 4538,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Val165Ile",
"transcript": "NM_023915.4",
"protein_id": "NP_076404.3",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 358,
"cds_start": 493,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260843.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023915.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR87",
"gene_hgnc_id": 4538,
"hgvs_c": "c.493G>A",
"hgvs_p": "p.Val165Ile",
"transcript": "ENST00000260843.5",
"protein_id": "ENSP00000260843.4",
"transcript_support_level": 1,
"aa_start": 165,
"aa_end": null,
"aa_length": 358,
"cds_start": 493,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_023915.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260843.5"
},
{
"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": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "NM_001393769.1",
"protein_id": "NP_001380698.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": null,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000687756.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393769.1"
},
{
"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": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "ENST00000687756.1",
"protein_id": "ENSP00000508695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": null,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001393769.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687756.1"
},
{
"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": 43,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-55306C>T",
"hgvs_p": null,
"transcript": "ENST00000474524.5",
"protein_id": "ENSP00000417235.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2145,
"cds_start": null,
"cds_end": null,
"cds_length": 6438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474524.5"
},
{
"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": 44,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-55306C>T",
"hgvs_p": null,
"transcript": "NM_053002.6",
"protein_id": "NP_443728.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2145,
"cds_start": null,
"cds_end": null,
"cds_length": 6438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053002.6"
},
{
"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": 44,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-55306C>T",
"hgvs_p": null,
"transcript": "ENST00000934759.1",
"protein_id": "ENSP00000604818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2144,
"cds_start": null,
"cds_end": null,
"cds_length": 6435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934759.1"
},
{
"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": 42,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.1969-55306C>T",
"hgvs_p": null,
"transcript": "ENST00000934758.1",
"protein_id": "ENSP00000604817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2056,
"cds_start": null,
"cds_end": null,
"cds_length": 6171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934758.1"
},
{
"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": 37,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.1726-55306C>T",
"hgvs_p": null,
"transcript": "ENST00000273432.8",
"protein_id": "ENSP00000273432.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1809,
"cds_start": null,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273432.8"
},
{
"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": 32,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.1864-55306C>T",
"hgvs_p": null,
"transcript": "ENST00000686666.1",
"protein_id": "ENSP00000509482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1556,
"cds_start": null,
"cds_end": null,
"cds_length": 4673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686666.1"
},
{
"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": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-41754C>T",
"hgvs_p": null,
"transcript": "ENST00000688234.1",
"protein_id": "ENSP00000509197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": null,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688234.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.193-41754C>T",
"hgvs_p": null,
"transcript": "ENST00000480026.1",
"protein_id": "ENSP00000417420.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480026.1"
},
{
"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": 46,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_017005676.2",
"protein_id": "XP_016861165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2197,
"cds_start": null,
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"cds_length": 6594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005676.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447403.1",
"protein_id": "XP_047303359.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447403.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_017005677.2",
"protein_id": "XP_016861166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2196,
"cds_start": null,
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"cds_length": 6591,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005677.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 45,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447404.1",
"protein_id": "XP_047303360.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447404.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447405.1",
"protein_id": "XP_047303361.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2179,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447405.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_017005678.2",
"protein_id": "XP_016861167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_017005678.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 44,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447406.1",
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"biotype": "protein_coding",
"feature": "XM_047447406.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 43,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447407.1",
"protein_id": "XP_047303363.1",
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"biotype": "protein_coding",
"feature": "XM_047447407.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 44,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447408.1",
"protein_id": "XP_047303364.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2144,
"cds_start": null,
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"cds_length": 6435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447408.1"
},
{
"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": 43,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-55306C>T",
"hgvs_p": null,
"transcript": "XM_047447409.1",
"protein_id": "XP_047303365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2115,
"cds_start": null,
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"cds_length": 6348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447409.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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],
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}