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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: 21-32603176-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32603176&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32603176,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000290155.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "NM_021254.4",
"protein_id": "NP_067077.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 290,
"cds_start": 651,
"cds_end": null,
"cds_length": 873,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": "ENST00000290155.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "ENST00000290155.8",
"protein_id": "ENSP00000290155.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 290,
"cds_start": 651,
"cds_end": null,
"cds_length": 873,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": "NM_021254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "ENST00000673807.1",
"protein_id": "ENSP00000501088.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 389,
"cds_start": 651,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "ENST00000382549.8",
"protein_id": "ENSP00000371989.4",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 245,
"cds_start": 651,
"cds_end": null,
"cds_length": 738,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "NM_001350338.2",
"protein_id": "NP_001337267.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 389,
"cds_start": 651,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "ENST00000673985.1",
"protein_id": "ENSP00000500984.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 373,
"cds_start": 651,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "ENST00000673945.1",
"protein_id": "ENSP00000501020.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 317,
"cds_start": 651,
"cds_end": null,
"cds_length": 954,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.552C>T",
"hgvs_p": "p.Ile184Ile",
"transcript": "ENST00000431216.5",
"protein_id": "ENSP00000391771.1",
"transcript_support_level": 5,
"aa_start": 184,
"aa_end": null,
"aa_length": 295,
"cds_start": 552,
"cds_end": null,
"cds_length": 889,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "NM_001350337.2",
"protein_id": "NP_001337266.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 269,
"cds_start": 651,
"cds_end": null,
"cds_length": 810,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "NM_001350336.2",
"protein_id": "NP_001337265.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 258,
"cds_start": 651,
"cds_end": null,
"cds_length": 777,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "ENST00000440966.5",
"protein_id": "ENSP00000411467.1",
"transcript_support_level": 3,
"aa_start": 217,
"aa_end": null,
"aa_length": 258,
"cds_start": 651,
"cds_end": null,
"cds_length": 777,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.363C>T",
"hgvs_p": "p.Ile121Ile",
"transcript": "ENST00000553001.2",
"protein_id": "ENSP00000446874.2",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 252,
"cds_start": 363,
"cds_end": null,
"cds_length": 759,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.651C>T",
"hgvs_p": "p.Ile217Ile",
"transcript": "NM_001350335.2",
"protein_id": "NP_001337264.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 245,
"cds_start": 651,
"cds_end": null,
"cds_length": 738,
"cdna_start": 785,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.354C>T",
"hgvs_p": "p.Ile118Ile",
"transcript": "NM_001350334.2",
"protein_id": "NP_001337263.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 191,
"cds_start": 354,
"cds_end": null,
"cds_length": 576,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Ile64Ile",
"transcript": "ENST00000425336.1",
"protein_id": "ENSP00000407362.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 116,
"cds_start": 192,
"cds_end": null,
"cds_length": 351,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.60C>T",
"hgvs_p": "p.Ile20Ile",
"transcript": "ENST00000431599.1",
"protein_id": "ENSP00000411306.1",
"transcript_support_level": 3,
"aa_start": 20,
"aa_end": null,
"aa_length": 78,
"cds_start": 60,
"cds_end": null,
"cds_length": 237,
"cdna_start": 62,
"cdna_end": null,
"cdna_length": 417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "n.*166C>T",
"hgvs_p": null,
"transcript": "ENST00000300260.7",
"protein_id": "ENSP00000300260.7",
"transcript_support_level": 2,
"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": 1243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "n.506C>T",
"hgvs_p": null,
"transcript": "ENST00000483315.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.651C>T",
"hgvs_p": null,
"transcript": "ENST00000673072.2",
"protein_id": "ENSP00000500800.2",
"transcript_support_level": null,
"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": 2261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.651C>T",
"hgvs_p": null,
"transcript": "ENST00000673633.1",
"protein_id": "ENSP00000501272.1",
"transcript_support_level": null,
"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": 4127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.426C>T",
"hgvs_p": null,
"transcript": "ENST00000673672.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.177C>T",
"hgvs_p": null,
"transcript": "ENST00000673694.1",
"protein_id": "ENSP00000501228.1",
"transcript_support_level": null,
"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": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.651C>T",
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{
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"clinvar_classification": "Likely benign",
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}