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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: 8-6499644-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=6499644&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 6499644,
"ref": "G",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001118887.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3457C>G",
"hgvs_p": null,
"transcript": "NM_001118887.2",
"protein_id": "NP_001112359.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": "ENST00000629816.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3457C>G",
"hgvs_p": null,
"transcript": "ENST00000629816.3",
"protein_id": "ENSP00000486858.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": -4,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": "NM_001118887.2",
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2137-208G>C",
"hgvs_p": null,
"transcript": "NM_024596.5",
"protein_id": "NP_078872.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "ENST00000344683.10",
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2137-208G>C",
"hgvs_p": null,
"transcript": "ENST00000344683.10",
"protein_id": "ENSP00000342924.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8008,
"mane_select": "NM_024596.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3457C>G",
"hgvs_p": null,
"transcript": "NM_001147.3",
"protein_id": "NP_001138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3457C>G",
"hgvs_p": null,
"transcript": "NM_001118888.2",
"protein_id": "NP_001112360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 444,
"cds_start": -4,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3457C>G",
"hgvs_p": null,
"transcript": "NM_001386335.1",
"protein_id": "NP_001373264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 443,
"cds_start": -4,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3605C>G",
"hgvs_p": null,
"transcript": "NM_001386336.1",
"protein_id": "NP_001373265.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 403,
"cds_start": -4,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANGPT2",
"gene_hgnc_id": 485,
"hgvs_c": "c.*3605C>G",
"hgvs_p": null,
"transcript": "NM_001386337.1",
"protein_id": "NP_001373266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5137,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2137-208G>C",
"hgvs_p": null,
"transcript": "ENST00000692836.1",
"protein_id": "ENSP00000509971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 890,
"cds_start": -4,
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"cds_length": 2673,
"cdna_start": null,
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"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,
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"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
"gene_hgnc_id": 6954,
"hgvs_c": "c.2137-208G>C",
"hgvs_p": null,
"transcript": "NM_001322042.2",
"protein_id": "NP_001308971.2",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "MCPH1",
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"transcript": "ENST00000689348.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.2137-208G>C",
"hgvs_p": null,
"transcript": "NM_001410917.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.2137-208G>C",
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},
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],
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.2137-208G>C",
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"transcript": "NM_001363979.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "MCPH1",
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"transcript": "ENST00000690826.1",
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},
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],
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.2137-208G>C",
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"transcript": "NM_001410916.1",
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},
{
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],
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.2137-208G>C",
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"transcript": "ENST00000691435.1",
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},
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"strand": true,
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],
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.1935+44392G>C",
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],
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],
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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,
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"gene_symbol": "MCPH1",
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"hgvs_c": "c.781-208G>C",
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"transcript": "ENST00000689736.1",
"protein_id": "ENSP00000509722.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MCPH1",
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"hgvs_c": "c.226-208G>C",
"hgvs_p": null,
"transcript": "ENST00000687413.1",
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