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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: 7-90245460-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=90245460&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 90245460,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001039706.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "NM_001039706.3",
"protein_id": "NP_001034795.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 941,
"cds_start": 36,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389297.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039706.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000389297.8",
"protein_id": "ENSP00000373948.4",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 941,
"cds_start": 36,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001039706.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389297.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "NM_001160138.2",
"protein_id": "NP_001153610.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 923,
"cds_start": 36,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160138.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000497910.5",
"protein_id": "ENSP00000419549.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 923,
"cds_start": 36,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497910.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000949775.1",
"protein_id": "ENSP00000619834.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 900,
"cds_start": 36,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949775.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "NM_001363438.1",
"protein_id": "NP_001350367.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 875,
"cds_start": 36,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363438.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000949772.1",
"protein_id": "ENSP00000619831.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 840,
"cds_start": 36,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949772.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000867385.1",
"protein_id": "ENSP00000537444.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 829,
"cds_start": 36,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867385.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000949774.1",
"protein_id": "ENSP00000619833.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 822,
"cds_start": 36,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949774.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000867384.1",
"protein_id": "ENSP00000537443.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 810,
"cds_start": 36,
"cds_end": null,
"cds_length": 2433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867384.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "ENST00000949773.1",
"protein_id": "ENSP00000619832.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 572,
"cds_start": 36,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949773.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_011516577.3",
"protein_id": "XP_011514879.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 959,
"cds_start": 36,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516577.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_011516578.3",
"protein_id": "XP_011514880.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 943,
"cds_start": 36,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516578.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_017012624.2",
"protein_id": "XP_016868113.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 941,
"cds_start": 36,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012624.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_017012625.2",
"protein_id": "XP_016868114.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 924,
"cds_start": 36,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012625.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_017012628.2",
"protein_id": "XP_016868117.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 893,
"cds_start": 36,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012628.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_047420845.1",
"protein_id": "XP_047276801.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 877,
"cds_start": 36,
"cds_end": null,
"cds_length": 2634,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420845.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_047420846.1",
"protein_id": "XP_047276802.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 860,
"cds_start": 36,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420846.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_017012632.2",
"protein_id": "XP_016868121.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 858,
"cds_start": 36,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012632.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_047420849.1",
"protein_id": "XP_047276805.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 811,
"cds_start": 36,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420849.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_047420850.1",
"protein_id": "XP_047276806.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 800,
"cds_start": 36,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420850.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP69",
"gene_hgnc_id": 26107,
"hgvs_c": "c.36C>T",
"hgvs_p": "p.Ala12Ala",
"transcript": "XM_047420851.1",
"protein_id": "XP_047276807.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 794,
"cds_start": 36,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420851.1"
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{
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"BP7",
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{
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],
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}
],
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"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not provided|CFAP69-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}