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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: 2-159163390-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=159163390&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 159163390,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033394.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "NM_033394.3",
"protein_id": "NP_203752.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1861,
"cds_start": 790,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263635.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033394.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000263635.8",
"protein_id": "ENSP00000263635.6",
"transcript_support_level": 5,
"aa_start": 264,
"aa_end": null,
"aa_length": 1861,
"cds_start": 790,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033394.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263635.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000851031.1",
"protein_id": "ENSP00000521100.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 1879,
"cds_start": 844,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851031.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000950898.1",
"protein_id": "ENSP00000620957.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 1879,
"cds_start": 844,
"cds_end": null,
"cds_length": 5640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950898.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Arg274Cys",
"transcript": "ENST00000851030.1",
"protein_id": "ENSP00000521099.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 1871,
"cds_start": 820,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851030.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000851035.1",
"protein_id": "ENSP00000521104.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1861,
"cds_start": 790,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851035.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000950882.1",
"protein_id": "ENSP00000620941.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1861,
"cds_start": 790,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950882.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000950888.1",
"protein_id": "ENSP00000620947.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1861,
"cds_start": 790,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950888.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000950894.1",
"protein_id": "ENSP00000620953.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1861,
"cds_start": 790,
"cds_end": null,
"cds_length": 5586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950894.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000939551.1",
"protein_id": "ENSP00000609610.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1860,
"cds_start": 787,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939551.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000939552.1",
"protein_id": "ENSP00000609611.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1860,
"cds_start": 787,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939552.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000950886.1",
"protein_id": "ENSP00000620945.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1860,
"cds_start": 787,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950886.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "NM_001350064.2",
"protein_id": "NP_001336993.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350064.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "NM_001350065.2",
"protein_id": "NP_001336994.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350065.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000853141.1",
"protein_id": "ENSP00000523200.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853141.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000853145.1",
"protein_id": "ENSP00000523204.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853145.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000939555.1",
"protein_id": "ENSP00000609614.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939555.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000950893.1",
"protein_id": "ENSP00000620952.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950893.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000950896.1",
"protein_id": "ENSP00000620955.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1854,
"cds_start": 790,
"cds_end": null,
"cds_length": 5565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950896.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000950900.1",
"protein_id": "ENSP00000620959.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1853,
"cds_start": 787,
"cds_end": null,
"cds_length": 5562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950900.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys",
"transcript": "ENST00000853146.1",
"protein_id": "ENSP00000523205.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 1851,
"cds_start": 790,
"cds_end": null,
"cds_length": 5556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853146.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TANC1",
"gene_hgnc_id": 29364,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263Cys",
"transcript": "ENST00000950891.1",
"protein_id": "ENSP00000620950.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1843,
"cds_start": 787,
"cds_end": null,
"cds_length": 5532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"hgvs_c": "c.790C>T",
"hgvs_p": "p.Arg264Cys"
}
],
"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
}