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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: 9-105635191-G-GCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=105635191&ref=G&alt=GCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 105635191,
"ref": "G",
"alt": "GCT",
"effect": "frameshift_variant",
"transcript": "ENST00000357998.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "NM_001079802.2",
"protein_id": "NP_001073270.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 7455,
"mane_select": "ENST00000357998.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "ENST00000357998.10",
"protein_id": "ENSP00000350687.6",
"transcript_support_level": 5,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 7455,
"mane_select": "NM_001079802.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "ENST00000223528.6",
"protein_id": "ENSP00000223528.2",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1443,
"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.*1355_*1356dupTC",
"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.*925_*926dupTC",
"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.*1355_*1356dupTC",
"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.*925_*926dupTC",
"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": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "NM_001351496.2",
"protein_id": "NP_001338425.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 7590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "NM_006731.2",
"protein_id": "NP_006722.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1248_1249dupTC",
"hgvs_p": "p.Pro417fs",
"transcript": "NM_001351497.2",
"protein_id": "NP_001338426.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 438,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 7688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.921_922dupTC",
"hgvs_p": "p.Pro308fs",
"transcript": "NM_001351499.2",
"protein_id": "NP_001338428.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 329,
"cds_start": 923,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1787,
"cdna_end": null,
"cdna_length": 7708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.921_922dupTC",
"hgvs_p": "p.Pro308fs",
"transcript": "NM_001351500.2",
"protein_id": "NP_001338429.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 329,
"cds_start": 923,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1652,
"cdna_end": null,
"cdna_length": 7573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.921_922dupTC",
"hgvs_p": "p.Pro308fs",
"transcript": "NM_001351501.2",
"protein_id": "NP_001338430.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 329,
"cds_start": 923,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1560,
"cdna_end": null,
"cdna_length": 7481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.921_922dupTC",
"hgvs_p": "p.Pro308fs",
"transcript": "NM_001351502.2",
"protein_id": "NP_001338431.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 329,
"cds_start": 923,
"cds_end": null,
"cds_length": 990,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 7801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422973.1",
"protein_id": "XP_047278929.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 7701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422974.1",
"protein_id": "XP_047278930.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 7738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422975.1",
"protein_id": "XP_047278931.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 7603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422976.1",
"protein_id": "XP_047278932.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 7836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422977.1",
"protein_id": "XP_047278933.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 7537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422978.1",
"protein_id": "XP_047278934.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 7684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422979.1",
"protein_id": "XP_047278935.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 8108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1317_1318dupTC",
"hgvs_p": "p.Pro440fs",
"transcript": "XM_047422980.1",
"protein_id": "XP_047278936.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 461,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1248_1249dupTC",
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{
"score": 14,
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"pathogenic_score": 14,
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"verdict": "Pathogenic",
"transcript": "ENST00000357998.10",
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"clinvar_disease": " 4, type A, type B4,Autosomal recessive limb-girdle muscular dystrophy type 2M,Dilated cardiomyopathy 1X,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability),Walker-Warburg congenital muscular dystrophy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"phenotype_combined": "not provided|Walker-Warburg congenital muscular dystrophy|Dilated cardiomyopathy 1X|Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4;Autosomal recessive limb-girdle muscular dystrophy type 2M;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4;Dilated cardiomyopathy 1X",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}