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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: 1-154589449-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=154589449&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 154589449,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000368474.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2682G>A",
"hgvs_p": "p.Val894Val",
"transcript": "NM_001111.5",
"protein_id": "NP_001102.3",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2682,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "ENST00000368474.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2682G>A",
"hgvs_p": "p.Val894Val",
"transcript": "ENST00000368474.9",
"protein_id": "ENSP00000357459.4",
"transcript_support_level": 1,
"aa_start": 894,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2682,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 6610,
"mane_select": "NM_001111.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000368471.8",
"protein_id": "ENSP00000357456.3",
"transcript_support_level": 1,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 6519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2712G>A",
"hgvs_p": "p.Val904Val",
"transcript": "ENST00000649724.2",
"protein_id": "ENSP00000497932.2",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2712,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2709G>A",
"hgvs_p": "p.Val903Val",
"transcript": "NM_001365045.1",
"protein_id": "NP_001351974.1",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1235,
"cds_start": 2709,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 2711,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2604G>A",
"hgvs_p": "p.Val868Val",
"transcript": "NM_015840.4",
"protein_id": "NP_056655.3",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1200,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 2784,
"cdna_end": null,
"cdna_length": 6532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2604G>A",
"hgvs_p": "p.Val868Val",
"transcript": "ENST00000529168.2",
"protein_id": "ENSP00000431794.2",
"transcript_support_level": 5,
"aa_start": 868,
"aa_end": null,
"aa_length": 1200,
"cds_start": 2604,
"cds_end": null,
"cds_length": 3603,
"cdna_start": 2768,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2565G>A",
"hgvs_p": "p.Val855Val",
"transcript": "ENST00000680270.2",
"protein_id": "ENSP00000505532.2",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1187,
"cds_start": 2565,
"cds_end": null,
"cds_length": 3564,
"cdna_start": 2565,
"cdna_end": null,
"cdna_length": 6675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2547G>A",
"hgvs_p": "p.Val849Val",
"transcript": "NM_015841.4",
"protein_id": "NP_056656.3",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2547,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 6475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2682G>A",
"hgvs_p": "p.Val894Val",
"transcript": "ENST00000680305.1",
"protein_id": "ENSP00000506312.1",
"transcript_support_level": null,
"aa_start": 894,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2682,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 6427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.2334G>A",
"hgvs_p": "p.Val778Val",
"transcript": "ENST00000681056.2",
"protein_id": "ENSP00000506234.2",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2334,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 6450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001025107.3",
"protein_id": "NP_001020278.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2784,
"cdna_end": null,
"cdna_length": 6532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001193495.2",
"protein_id": "NP_001180424.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 6663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001365046.1",
"protein_id": "NP_001351975.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
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"cdna_start": 2575,
"cdna_end": null,
"cdna_length": 6323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001365047.1",
"protein_id": "NP_001351976.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2726,
"cdna_end": null,
"cdna_length": 6474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "NM_001365048.1",
"protein_id": "NP_001351977.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
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"cdna_start": 2714,
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"cdna_length": 6462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000471068.3",
"protein_id": "ENSP00000518935.1",
"transcript_support_level": 4,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 4119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000494866.2",
"protein_id": "ENSP00000518936.1",
"transcript_support_level": 2,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2589,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000648231.2",
"protein_id": "ENSP00000497555.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
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"cdna_start": 3233,
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"cdna_length": 6971,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000648311.1",
"protein_id": "ENSP00000498137.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
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"cdna_start": 2841,
"cdna_end": null,
"cdna_length": 6539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000648871.2",
"protein_id": "ENSP00000497793.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2364,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000649022.2",
"protein_id": "ENSP00000496896.2",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 931,
"cds_start": 1797,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAR",
"gene_hgnc_id": 225,
"hgvs_c": "c.1797G>A",
"hgvs_p": "p.Val599Val",
"transcript": "ENST00000649749.1",
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{
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "not specified|Symmetrical dyschromatosis of extremities|Aicardi-Goutieres syndrome 6;Symmetrical dyschromatosis of extremities|not provided|Aicardi-Goutieres syndrome 6",
"pathogenicity_classification_combined": "Benign",
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}
],
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}