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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: 3-151338052-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=151338052&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 151338052,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000302632.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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": "P2RY12",
"gene_hgnc_id": 18124,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "NM_022788.5",
"protein_id": "NP_073625.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 342,
"cds_start": 794,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": "ENST00000302632.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "P2RY12",
"gene_hgnc_id": 18124,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "ENST00000302632.4",
"protein_id": "ENSP00000307259.4",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 342,
"cds_start": 794,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2244,
"mane_select": "NM_022788.5",
"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": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-12007C>G",
"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": -4,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10794,
"mane_select": "ENST00000687756.1",
"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": 45,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-12007C>G",
"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": -4,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10794,
"mane_select": "NM_001393769.1",
"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": 43,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-12007C>G",
"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": -4,
"cds_end": null,
"cds_length": 6438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P2RY12",
"gene_hgnc_id": 18124,
"hgvs_c": "c.794G>C",
"hgvs_p": "p.Arg265Pro",
"transcript": "NM_176876.3",
"protein_id": "NP_795345.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 342,
"cds_start": 794,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 2244,
"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": 44,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-12007C>G",
"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": -4,
"cds_end": null,
"cds_length": 6438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10689,
"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": 37,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.1726-12007C>G",
"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": -4,
"cds_end": null,
"cds_length": 5430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6401,
"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": 32,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.1864-12007C>G",
"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": -4,
"cds_end": null,
"cds_length": 4673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"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": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "n.328-12007C>G",
"hgvs_p": null,
"transcript": "ENST00000468305.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "n.74-12007C>G",
"hgvs_p": null,
"transcript": "ENST00000491549.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"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,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
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"gene_symbol": "MED12L",
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"hgvs_c": "n.2509-12007C>G",
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"transcript": "ENST00000685357.1",
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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": 18,
"intron_rank": 15,
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"gene_symbol": "MED12L",
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"hgvs_c": "n.2326-12007C>G",
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"transcript": "ENST00000693531.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "MED12L",
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"hgvs_c": "c.2251-12007C>G",
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"transcript": "XM_017005676.2",
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},
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],
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},
{
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],
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"gene_symbol": "MED12L",
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],
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"hgvs_c": "c.2251-12007C>G",
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},
{
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"strand": true,
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],
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"exon_count": 45,
"intron_rank": 16,
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"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2251-12007C>G",
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"transcript": "XM_047447405.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 16,
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"gene_symbol": "MED12L",
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"transcript": "XM_017005678.2",
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],
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],
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-12007C>G",
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"transcript": "XM_047447408.1",
"protein_id": "XP_047303364.1",
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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": 43,
"intron_rank": 15,
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"gene_symbol": "MED12L",
"gene_hgnc_id": 16050,
"hgvs_c": "c.2146-12007C>G",
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"transcript": "XM_047447409.1",
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