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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: 12-69574095-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=69574095&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 69574095,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006654.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001278356.2",
"protein_id": "NP_001265285.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "ENST00000549921.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278356.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000549921.6",
"protein_id": "ENSP00000450048.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 6768,
"mane_select": "NM_001278356.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549921.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000550389.5",
"protein_id": "ENSP00000447241.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 6600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550389.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001042555.3",
"protein_id": "NP_001036020.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 6829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042555.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001278351.2",
"protein_id": "NP_001265280.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 6950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278351.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001278353.2",
"protein_id": "NP_001265282.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278353.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001278354.2",
"protein_id": "NP_001265283.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 6882,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278354.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001278355.2",
"protein_id": "NP_001265284.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 6864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278355.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_001278357.2",
"protein_id": "NP_001265286.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 6629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278357.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "NM_006654.5",
"protein_id": "NP_006645.3",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006654.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000397997.6",
"protein_id": "ENSP00000381083.2",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 6550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397997.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872616.1",
"protein_id": "ENSP00000542675.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 6914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872616.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872617.1",
"protein_id": "ENSP00000542676.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 6333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872617.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872618.1",
"protein_id": "ENSP00000542677.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1162,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872618.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872619.1",
"protein_id": "ENSP00000542678.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 3772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872619.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872620.1",
"protein_id": "ENSP00000542679.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872620.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872621.1",
"protein_id": "ENSP00000542680.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 5989,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872621.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000872622.1",
"protein_id": "ENSP00000542681.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872622.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000934305.1",
"protein_id": "ENSP00000604364.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 6661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934305.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000934306.1",
"protein_id": "ENSP00000604365.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
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"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 6259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934306.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000934307.1",
"protein_id": "ENSP00000604366.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934307.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRS2",
"gene_hgnc_id": 16971,
"hgvs_c": "c.667G>C",
"hgvs_p": "p.Ala223Pro",
"transcript": "ENST00000934308.1",
"protein_id": "ENSP00000604367.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 508,
"cds_start": 667,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1244,
"cdna_end": null,
"cdna_length": 4513,
"mane_select": null,
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}