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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: 11-108140108-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108140108&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 108140108,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000265838.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"transcript": "NM_000019.4",
"protein_id": "NP_000010.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 427,
"cds_start": 623,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": "ENST00000265838.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"transcript": "ENST00000265838.9",
"protein_id": "ENSP00000265838.4",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 427,
"cds_start": 623,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": "NM_000019.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.*96G>C",
"hgvs_p": null,
"transcript": "ENST00000531813.5",
"protein_id": "ENSP00000435965.1",
"transcript_support_level": 1,
"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": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.*96G>C",
"hgvs_p": null,
"transcript": "ENST00000531813.5",
"protein_id": "ENSP00000435965.1",
"transcript_support_level": 1,
"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": 2258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"transcript": "NM_001386677.1",
"protein_id": "NP_001373606.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 434,
"cds_start": 623,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 1558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.623G>C",
"hgvs_p": "p.Arg208Pro",
"transcript": "ENST00000672354.1",
"protein_id": "ENSP00000500490.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 434,
"cds_start": 623,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386681.1",
"protein_id": "NP_001373610.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386682.1",
"protein_id": "NP_001373611.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386685.1",
"protein_id": "NP_001373614.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386686.1",
"protein_id": "NP_001373615.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386687.1",
"protein_id": "NP_001373616.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386688.1",
"protein_id": "NP_001373617.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386689.1",
"protein_id": "NP_001373618.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386690.1",
"protein_id": "NP_001373619.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
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"cdna_start": 682,
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"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "NM_001386691.1",
"protein_id": "NP_001373620.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "ENST00000672284.1",
"protein_id": "ENSP00000500444.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
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"cdna_start": 759,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.353G>C",
"hgvs_p": "p.Arg118Pro",
"transcript": "ENST00000673531.1",
"protein_id": "ENSP00000500163.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 337,
"cds_start": 353,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.326G>C",
"hgvs_p": "p.Arg109Pro",
"transcript": "NM_001386679.1",
"protein_id": "NP_001373608.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 328,
"cds_start": 326,
"cds_end": null,
"cds_length": 987,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "NM_001386678.1",
"protein_id": "NP_001373607.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 322,
"cds_start": 308,
"cds_end": null,
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"cdna_start": 348,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.308G>C",
"hgvs_p": "p.Arg103Pro",
"transcript": "ENST00000672907.2",
"protein_id": "ENSP00000500928.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 322,
"cds_start": 308,
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"cdna_start": 348,
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"cdna_length": 2576,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "c.260G>C",
"hgvs_p": "p.Arg87Pro",
"transcript": "ENST00000672367.1",
"protein_id": "ENSP00000500209.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 306,
"cds_start": 260,
"cds_end": null,
"cds_length": 921,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 1174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.118G>C",
"hgvs_p": null,
"transcript": "ENST00000532792.5",
"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,
"cdna_end": null,
"cdna_length": 674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT1",
"gene_hgnc_id": 93,
"hgvs_c": "n.84G>C",
"hgvs_p": null,
"transcript": "ENST00000533610.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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}
],
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}