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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: 9-105635175-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105635175&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 105635175,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000357998.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "NM_001079802.2",
"protein_id": "NP_001073270.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 7455,
"mane_select": "ENST00000357998.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "ENST00000357998.10",
"protein_id": "ENSP00000350687.6",
"transcript_support_level": 5,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 7455,
"mane_select": "NM_001079802.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "ENST00000223528.6",
"protein_id": "ENSP00000223528.2",
"transcript_support_level": 1,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*1335A>G",
"hgvs_p": null,
"transcript": "ENST00000602526.1",
"protein_id": "ENSP00000473347.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*905A>G",
"hgvs_p": null,
"transcript": "ENST00000602661.6",
"protein_id": "ENSP00000473540.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*1335A>G",
"hgvs_p": null,
"transcript": "ENST00000602526.1",
"protein_id": "ENSP00000473347.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "n.*905A>G",
"hgvs_p": null,
"transcript": "ENST00000602661.6",
"protein_id": "ENSP00000473540.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "NM_001351496.2",
"protein_id": "NP_001338425.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1647,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "NM_006731.2",
"protein_id": "NP_006722.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "NM_001351497.2",
"protein_id": "NP_001338426.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 438,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Thr301Ala",
"transcript": "NM_001351499.2",
"protein_id": "NP_001338428.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 329,
"cds_start": 901,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Thr301Ala",
"transcript": "NM_001351500.2",
"protein_id": "NP_001338429.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 329,
"cds_start": 901,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Thr301Ala",
"transcript": "NM_001351501.2",
"protein_id": "NP_001338430.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 329,
"cds_start": 901,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 7481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.901A>G",
"hgvs_p": "p.Thr301Ala",
"transcript": "NM_001351502.2",
"protein_id": "NP_001338431.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 329,
"cds_start": 901,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422973.1",
"protein_id": "XP_047278929.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1758,
"cdna_end": null,
"cdna_length": 7701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422974.1",
"protein_id": "XP_047278930.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 7738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422975.1",
"protein_id": "XP_047278931.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422976.1",
"protein_id": "XP_047278932.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 7836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422977.1",
"protein_id": "XP_047278933.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 7537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422978.1",
"protein_id": "XP_047278934.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422979.1",
"protein_id": "XP_047278935.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1297A>G",
"hgvs_p": "p.Thr433Ala",
"transcript": "XM_047422980.1",
"protein_id": "XP_047278936.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 461,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"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": "FKTN",
"gene_hgnc_id": 3622,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Thr410Ala",
"transcript": "XM_047422981.1",
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:8 B:1",
"phenotype_combined": "not specified|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4|not provided|Cardiovascular phenotype|Dilated cardiomyopathy 1X|Walker-Warburg congenital muscular dystrophy|Cardiomyopathy;Ventricular tachycardia",
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}
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}