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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: 21-32604202-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=32604202&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 32604202,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000290155.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "NM_021254.4",
"protein_id": "NP_067077.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 290,
"cds_start": 457,
"cds_end": null,
"cds_length": 873,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": "ENST00000290155.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "ENST00000290155.8",
"protein_id": "ENSP00000290155.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 290,
"cds_start": 457,
"cds_end": null,
"cds_length": 873,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": "NM_021254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "ENST00000673807.1",
"protein_id": "ENSP00000501088.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 389,
"cds_start": 457,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 4781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "ENST00000382549.8",
"protein_id": "ENSP00000371989.4",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 245,
"cds_start": 457,
"cds_end": null,
"cds_length": 738,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "NM_001350338.2",
"protein_id": "NP_001337267.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 389,
"cds_start": 457,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 4357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "ENST00000673985.1",
"protein_id": "ENSP00000500984.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 373,
"cds_start": 457,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "ENST00000673945.1",
"protein_id": "ENSP00000501020.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 317,
"cds_start": 457,
"cds_end": null,
"cds_length": 954,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 3883,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"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.358G>T",
"hgvs_p": "p.Val120Phe",
"transcript": "ENST00000431216.5",
"protein_id": "ENSP00000391771.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 295,
"cds_start": 358,
"cds_end": null,
"cds_length": 889,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "NM_001350337.2",
"protein_id": "NP_001337266.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 269,
"cds_start": 457,
"cds_end": null,
"cds_length": 810,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "NM_001350336.2",
"protein_id": "NP_001337265.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 258,
"cds_start": 457,
"cds_end": null,
"cds_length": 777,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 3420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "ENST00000440966.5",
"protein_id": "ENSP00000411467.1",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 258,
"cds_start": 457,
"cds_end": null,
"cds_length": 777,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"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.169G>T",
"hgvs_p": "p.Val57Phe",
"transcript": "ENST00000553001.2",
"protein_id": "ENSP00000446874.2",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 252,
"cds_start": 169,
"cds_end": null,
"cds_length": 759,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.457G>T",
"hgvs_p": "p.Val153Phe",
"transcript": "NM_001350335.2",
"protein_id": "NP_001337264.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 245,
"cds_start": 457,
"cds_end": null,
"cds_length": 738,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 2294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.160G>T",
"hgvs_p": "p.Val54Phe",
"transcript": "NM_001350334.2",
"protein_id": "NP_001337263.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 191,
"cds_start": 160,
"cds_end": null,
"cds_length": 576,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 3448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "c.406G>T",
"hgvs_p": "p.Val136Phe",
"transcript": "ENST00000458138.1",
"protein_id": "ENSP00000393104.1",
"transcript_support_level": 3,
"aa_start": 136,
"aa_end": null,
"aa_length": 182,
"cds_start": 406,
"cds_end": null,
"cds_length": 551,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000673870.1",
"protein_id": "ENSP00000501060.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 132,
"cds_start": 130,
"cds_end": null,
"cds_length": 399,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 401,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "n.389G>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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298",
"gene_hgnc_id": 1301,
"hgvs_c": "n.312G>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": 4,
"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.457G>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": 4,
"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.457G>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": 1,
"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.232G>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": 4,
"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.457G>T",
"hgvs_p": null,
"transcript": "ENST00000673722.1",
"protein_id": "ENSP00000501143.1",
"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": 3226,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP298-TCP10L",
"gene_hgnc_id": 54636,
"hgvs_c": "n.457G>T",
"hgvs_p": null,
"transcript": "ENST00000673727.1",
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{
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"effects": [
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}