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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: 2-86173701-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86173701&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86173701,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006839.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_006839.3",
"protein_id": "NP_006830.2",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 758,
"cds_start": 370,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": "ENST00000410111.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006839.3"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000410111.8",
"protein_id": "ENSP00000387262.3",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 758,
"cds_start": 370,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2689,
"mane_select": "NM_006839.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410111.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000442664.6",
"protein_id": "ENSP00000407788.2",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 757,
"cds_start": 370,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 2627,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442664.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000449247.6",
"protein_id": "ENSP00000396899.2",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 747,
"cds_start": 370,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449247.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "n.370C>G",
"hgvs_p": null,
"transcript": "ENST00000409258.2",
"protein_id": "ENSP00000387237.2",
"transcript_support_level": 1,
"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": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409258.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001100169.2",
"protein_id": "NP_001093639.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 757,
"cds_start": 370,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100169.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400086.1",
"protein_id": "NP_001387015.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 756,
"cds_start": 370,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400086.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400087.1",
"protein_id": "NP_001387016.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 756,
"cds_start": 370,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400087.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Pro122Ala",
"transcript": "NM_001400088.1",
"protein_id": "NP_001387017.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 756,
"cds_start": 364,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400088.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000962814.1",
"protein_id": "ENSP00000632873.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 756,
"cds_start": 370,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 2721,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962814.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.364C>G",
"hgvs_p": "p.Pro122Ala",
"transcript": "ENST00000962816.1",
"protein_id": "ENSP00000632875.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 756,
"cds_start": 364,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962816.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400089.1",
"protein_id": "NP_001387018.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 755,
"cds_start": 370,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400089.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400100.1",
"protein_id": "NP_001387029.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 755,
"cds_start": 370,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400100.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000962812.1",
"protein_id": "ENSP00000632871.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 755,
"cds_start": 370,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962812.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400090.1",
"protein_id": "NP_001387019.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 754,
"cds_start": 370,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400090.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000962810.1",
"protein_id": "ENSP00000632869.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 754,
"cds_start": 370,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962810.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400091.1",
"protein_id": "NP_001387020.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 753,
"cds_start": 370,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400091.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000910384.1",
"protein_id": "ENSP00000580443.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 753,
"cds_start": 370,
"cds_end": null,
"cds_length": 2262,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910384.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400101.1",
"protein_id": "NP_001387030.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 752,
"cds_start": 370,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400101.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "ENST00000923521.1",
"protein_id": "ENSP00000593580.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 752,
"cds_start": 370,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923521.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001100170.2",
"protein_id": "NP_001093640.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 747,
"cds_start": 370,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100170.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMMT",
"gene_hgnc_id": 6047,
"hgvs_c": "c.370C>G",
"hgvs_p": "p.Pro124Ala",
"transcript": "NM_001400102.1",
"protein_id": "NP_001387031.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 746,
"cds_start": 370,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400102.1"
},
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}