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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: 18-23530033-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23530033&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23530033,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_013326.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "NM_013326.5",
"protein_id": "NP_037458.3",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 657,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269221.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013326.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "ENST00000269221.8",
"protein_id": "ENSP00000269221.2",
"transcript_support_level": 1,
"aa_start": 500,
"aa_end": null,
"aa_length": 657,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013326.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269221.8"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "ENST00000590868.5",
"protein_id": "ENSP00000467007.1",
"transcript_support_level": 2,
"aa_start": 452,
"aa_end": null,
"aa_length": 609,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590868.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "ENST00000615148.5",
"protein_id": "ENSP00000482573.2",
"transcript_support_level": 5,
"aa_start": 500,
"aa_end": null,
"aa_length": 609,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615148.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.86-306G>A",
"hgvs_p": null,
"transcript": "ENST00000593280.2",
"protein_id": "ENSP00000467150.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593280.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*1157C>T",
"hgvs_p": null,
"transcript": "ENST00000589215.5",
"protein_id": "ENSP00000467852.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*1157C>T",
"hgvs_p": null,
"transcript": "ENST00000589215.5",
"protein_id": "ENSP00000467852.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589215.5"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1548C>T",
"hgvs_p": "p.Tyr516Tyr",
"transcript": "ENST00000897724.1",
"protein_id": "ENSP00000567783.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 673,
"cds_start": 1548,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897724.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1515C>T",
"hgvs_p": "p.Tyr505Tyr",
"transcript": "ENST00000926737.1",
"protein_id": "ENSP00000596796.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 662,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926737.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1497C>T",
"hgvs_p": "p.Tyr499Tyr",
"transcript": "ENST00000897720.1",
"protein_id": "ENSP00000567779.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 656,
"cds_start": 1497,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897720.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1467C>T",
"hgvs_p": "p.Tyr489Tyr",
"transcript": "ENST00000897725.1",
"protein_id": "ENSP00000567784.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 646,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897725.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1443C>T",
"hgvs_p": "p.Tyr481Tyr",
"transcript": "ENST00000949335.1",
"protein_id": "ENSP00000619394.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 638,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949335.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1440C>T",
"hgvs_p": "p.Tyr480Tyr",
"transcript": "ENST00000949337.1",
"protein_id": "ENSP00000619396.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 637,
"cds_start": 1440,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949337.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1422C>T",
"hgvs_p": "p.Tyr474Tyr",
"transcript": "ENST00000897721.1",
"protein_id": "ENSP00000567780.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 631,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897721.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1413C>T",
"hgvs_p": "p.Tyr471Tyr",
"transcript": "ENST00000897722.1",
"protein_id": "ENSP00000567781.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 628,
"cds_start": 1413,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897722.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Tyr457Tyr",
"transcript": "ENST00000949339.1",
"protein_id": "ENSP00000619398.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 614,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949339.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "NM_001318709.1",
"protein_id": "NP_001305638.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 609,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318709.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1500C>T",
"hgvs_p": "p.Tyr500Tyr",
"transcript": "ENST00000897726.1",
"protein_id": "ENSP00000567785.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 595,
"cds_start": 1500,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897726.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1356C>T",
"hgvs_p": "p.Tyr452Tyr",
"transcript": "NM_001276342.1",
"protein_id": "NP_001263271.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 561,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276342.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1194C>T",
"hgvs_p": "p.Tyr398Tyr",
"transcript": "ENST00000897723.1",
"protein_id": "ENSP00000567782.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 555,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897723.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1029C>T",
"hgvs_p": "p.Tyr343Tyr",
"transcript": "NM_001318707.1",
"protein_id": "NP_001305636.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 500,
"cds_start": 1029,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318707.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1026C>T",
"hgvs_p": "p.Tyr342Tyr",
"transcript": "ENST00000949336.1",
"protein_id": "ENSP00000619395.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 499,
"cds_start": 1026,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"hgvs_p": "p.Tyr500Tyr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000593280.2",
"gene_symbol": "NPC1",
"hgnc_id": 7897,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.86-306G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}