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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: 9-131522049-GCC-ACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131522049&ref=GCC&alt=ACT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "POMT1",
"hgnc_id": 9202,
"hgvs_c": "c.1894_1896delGCCinsACT",
"hgvs_p": "p.Ala632Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_007171.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000230289",
"hgnc_id": null,
"hgvs_c": "n.62+117_62+119delGGCinsAGT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000415423.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1828,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077365.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1828_1830delGCCinsACT",
"hgvs_p": "p.Ala610Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000402686.8",
"protein_coding": true,
"protein_id": "NP_001070833.1",
"strand": true,
"transcript": "NM_001077365.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2014,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1828,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402686.8",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1828_1830delGCCinsACT",
"hgvs_p": "p.Ala610Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077365.2",
"protein_coding": true,
"protein_id": "ENSP00000385797.4",
"strand": true,
"transcript": "ENST00000402686.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 747,
"aa_ref": "A",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2209,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372228.9",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1894_1896delGCCinsACT",
"hgvs_p": "p.Ala632Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361302.3",
"strand": true,
"transcript": "ENST00000372228.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 744,
"aa_ref": "A",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1885,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423007.6",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1885_1887delGCCinsACT",
"hgvs_p": "p.Ala629Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404119.2",
"strand": true,
"transcript": "ENST00000423007.6",
"transcript_support_level": 1
},
{
"aa_alt": "YL",
"aa_end": null,
"aa_length": 745,
"aa_ref": "CL",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 2238,
"cds_start": 1895,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955371.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1895_1897delGCCinsACT",
"hgvs_p": "p.Cys632Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625430.1",
"strand": true,
"transcript": "ENST00000955371.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 747,
"aa_ref": "A",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353193.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1894_1896delGCCinsACT",
"hgvs_p": "p.Ala632Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340122.2",
"strand": true,
"transcript": "NM_001353193.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 747,
"aa_ref": "A",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_007171.4",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1894_1896delGCCinsACT",
"hgvs_p": "p.Ala632Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009102.4",
"strand": true,
"transcript": "NM_007171.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 747,
"aa_ref": "A",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1894,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000955372.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1894_1896delGCCinsACT",
"hgvs_p": "p.Ala632Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625431.1",
"strand": true,
"transcript": "ENST00000955372.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1828,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136113.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1828_1830delGCCinsACT",
"hgvs_p": "p.Ala610Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129585.1",
"strand": true,
"transcript": "NM_001136113.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1828,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676640.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1828_1830delGCCinsACT",
"hgvs_p": "p.Ala610Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503281.1",
"strand": true,
"transcript": "ENST00000676640.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "A",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 2194,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1828,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929070.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1828_1830delGCCinsACT",
"hgvs_p": "p.Ala610Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599129.1",
"strand": true,
"transcript": "ENST00000929070.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 721,
"aa_ref": "A",
"aa_start": 606,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 2012,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1816,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374689.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1816_1818delGCCinsACT",
"hgvs_p": "p.Ala606Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361618.1",
"strand": true,
"transcript": "NM_001374689.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 705,
"aa_ref": "A",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 1888,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1768,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000851502.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1768_1770delGCCinsACT",
"hgvs_p": "p.Ala590Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521561.1",
"strand": true,
"transcript": "ENST00000851502.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 695,
"aa_ref": "A",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1738,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353196.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1738_1740delGCCinsACT",
"hgvs_p": "p.Ala580Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340125.1",
"strand": true,
"transcript": "NM_001353196.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 695,
"aa_ref": "A",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1738,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678303.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1738_1740delGCCinsACT",
"hgvs_p": "p.Ala580Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503696.1",
"strand": true,
"transcript": "ENST00000678303.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 1928,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1732,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353197.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1732_1734delGCCinsACT",
"hgvs_p": "p.Ala578Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340126.2",
"strand": true,
"transcript": "NM_001353197.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 693,
"aa_ref": "A",
"aa_start": 578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2629,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1732,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353198.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1732_1734delGCCinsACT",
"hgvs_p": "p.Ala578Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340127.2",
"strand": true,
"transcript": "NM_001353198.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 1862,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1666,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001077366.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1666_1668delGCCinsACT",
"hgvs_p": "p.Ala556Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001070834.1",
"strand": true,
"transcript": "NM_001077366.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1666,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353194.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1666_1668delGCCinsACT",
"hgvs_p": "p.Ala556Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340123.1",
"strand": true,
"transcript": "NM_001353194.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 671,
"aa_ref": "A",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1666,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341012.13",
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