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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: 1-16033649-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=16033649&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 16033649,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_004070.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2055T>C",
"hgvs_p": "p.Ala685Ala",
"transcript": "NM_004070.4",
"protein_id": "NP_004061.3",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 687,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331433.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004070.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2055T>C",
"hgvs_p": "p.Ala685Ala",
"transcript": "ENST00000331433.5",
"protein_id": "ENSP00000332771.4",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 687,
"cds_start": 2055,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004070.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331433.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "ENST00000375692.5",
"protein_id": "ENSP00000364844.1",
"transcript_support_level": 1,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375692.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2094T>C",
"hgvs_p": "p.Ala698Ala",
"transcript": "ENST00000861487.1",
"protein_id": "ENSP00000531546.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 700,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861487.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2091T>C",
"hgvs_p": "p.Ala697Ala",
"transcript": "ENST00000861485.1",
"protein_id": "ENSP00000531544.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 699,
"cds_start": 2091,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861485.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "NM_001042704.2",
"protein_id": "NP_001036169.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042704.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "ENST00000861477.1",
"protein_id": "ENSP00000531536.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861477.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "ENST00000861482.1",
"protein_id": "ENSP00000531541.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861482.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "ENST00000956816.1",
"protein_id": "ENSP00000626875.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956816.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "ENST00000956817.1",
"protein_id": "ENSP00000626876.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956817.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2052T>C",
"hgvs_p": "p.Ala684Ala",
"transcript": "ENST00000956818.1",
"protein_id": "ENSP00000626877.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 686,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956818.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2046T>C",
"hgvs_p": "p.Ala682Ala",
"transcript": "ENST00000861499.1",
"protein_id": "ENSP00000531558.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 684,
"cds_start": 2046,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861499.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2043T>C",
"hgvs_p": "p.Ala681Ala",
"transcript": "ENST00000861500.1",
"protein_id": "ENSP00000531559.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 683,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861500.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2028T>C",
"hgvs_p": "p.Ala676Ala",
"transcript": "ENST00000861494.1",
"protein_id": "ENSP00000531553.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 678,
"cds_start": 2028,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861494.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.2025T>C",
"hgvs_p": "p.Ala675Ala",
"transcript": "ENST00000861486.1",
"protein_id": "ENSP00000531545.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 677,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861486.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1998T>C",
"hgvs_p": "p.Ala666Ala",
"transcript": "ENST00000861478.1",
"protein_id": "ENSP00000531537.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 668,
"cds_start": 1998,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861478.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1995T>C",
"hgvs_p": "p.Ala665Ala",
"transcript": "ENST00000861490.1",
"protein_id": "ENSP00000531549.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 667,
"cds_start": 1995,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861490.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1968T>C",
"hgvs_p": "p.Ala656Ala",
"transcript": "ENST00000861488.1",
"protein_id": "ENSP00000531547.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 658,
"cds_start": 1968,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861488.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1965T>C",
"hgvs_p": "p.Ala655Ala",
"transcript": "ENST00000861489.1",
"protein_id": "ENSP00000531548.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 657,
"cds_start": 1965,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861489.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Ala653Ala",
"transcript": "ENST00000861479.1",
"protein_id": "ENSP00000531538.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 655,
"cds_start": 1959,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861479.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Ala653Ala",
"transcript": "ENST00000861480.1",
"protein_id": "ENSP00000531539.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 655,
"cds_start": 1959,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861480.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCNKA",
"gene_hgnc_id": 2026,
"hgvs_c": "c.1959T>C",
"hgvs_p": "p.Ala653Ala",
"transcript": "ENST00000861484.1",
"protein_id": "ENSP00000531543.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 655,
"cds_start": 1959,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
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"bayesdelnoaf_score": -0.74,
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004070.4",
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],
"inheritance_mode": "AR,Unknown",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}