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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: 2-86144760-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86144760&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86144760,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_006839.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1785A>G",
"hgvs_p": "p.Ala595Ala",
"transcript": "NM_006839.3",
"protein_id": "NP_006830.2",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 758,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": "ENST00000410111.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006839.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1785A>G",
"hgvs_p": "p.Ala595Ala",
"transcript": "ENST00000410111.8",
"protein_id": "ENSP00000387262.3",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 758,
"cds_start": 1785,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1865,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": "NM_006839.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410111.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1782A>G",
"hgvs_p": "p.Ala594Ala",
"transcript": "ENST00000442664.6",
"protein_id": "ENSP00000407788.2",
"transcript_support_level": 1,
"aa_start": 594,
"aa_end": null,
"aa_length": 757,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1803,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442664.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1752A>G",
"hgvs_p": "p.Ala584Ala",
"transcript": "ENST00000449247.6",
"protein_id": "ENSP00000396899.2",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 747,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1842,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449247.6"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1782A>G",
"hgvs_p": "p.Ala594Ala",
"transcript": "NM_001100169.2",
"protein_id": "NP_001093639.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 757,
"cds_start": 1782,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100169.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1779A>G",
"hgvs_p": "p.Ala593Ala",
"transcript": "NM_001400086.1",
"protein_id": "NP_001387015.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 756,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400086.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1779A>G",
"hgvs_p": "p.Ala593Ala",
"transcript": "NM_001400087.1",
"protein_id": "NP_001387016.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 756,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400087.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1779A>G",
"hgvs_p": "p.Ala593Ala",
"transcript": "NM_001400088.1",
"protein_id": "NP_001387017.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 756,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1859,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400088.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1779A>G",
"hgvs_p": "p.Ala593Ala",
"transcript": "ENST00000962814.1",
"protein_id": "ENSP00000632873.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 756,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962814.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1779A>G",
"hgvs_p": "p.Ala593Ala",
"transcript": "ENST00000962816.1",
"protein_id": "ENSP00000632875.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 756,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962816.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Ala592Ala",
"transcript": "NM_001400089.1",
"protein_id": "NP_001387018.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 755,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400089.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Ala592Ala",
"transcript": "NM_001400100.1",
"protein_id": "NP_001387029.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 755,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400100.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Ala592Ala",
"transcript": "ENST00000962812.1",
"protein_id": "ENSP00000632871.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 755,
"cds_start": 1776,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1895,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962812.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1773A>G",
"hgvs_p": "p.Ala591Ala",
"transcript": "NM_001400090.1",
"protein_id": "NP_001387019.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 754,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400090.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1773A>G",
"hgvs_p": "p.Ala591Ala",
"transcript": "ENST00000962810.1",
"protein_id": "ENSP00000632869.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 754,
"cds_start": 1773,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1987,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962810.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1770A>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "NM_001400091.1",
"protein_id": "NP_001387020.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 753,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400091.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1770A>G",
"hgvs_p": "p.Ala590Ala",
"transcript": "ENST00000910384.1",
"protein_id": "ENSP00000580443.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 753,
"cds_start": 1770,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910384.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Ala589Ala",
"transcript": "NM_001400101.1",
"protein_id": "NP_001387030.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 752,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400101.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1767A>G",
"hgvs_p": "p.Ala589Ala",
"transcript": "ENST00000923521.1",
"protein_id": "ENSP00000593580.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 752,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923521.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1752A>G",
"hgvs_p": "p.Ala584Ala",
"transcript": "NM_001100170.2",
"protein_id": "NP_001093640.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 747,
"cds_start": 1752,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100170.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1749A>G",
"hgvs_p": "p.Ala583Ala",
"transcript": "NM_001400102.1",
"protein_id": "NP_001387031.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 746,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400102.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.1749A>G",
"hgvs_p": "p.Ala583Ala",
"transcript": "NM_001400103.1",
"protein_id": "NP_001387032.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 746,
"cds_start": 1749,
"cds_end": null,
"cds_length": 2241,
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{
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "NM_006839.3",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}