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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: 9-131522207-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=131522207&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "POMT1",
"hgnc_id": 9202,
"hgvs_c": "c.2052C>T",
"hgvs_p": "p.Ile684Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_007171.4",
"verdict": "Likely_benign"
},
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000230289",
"hgnc_id": null,
"hgvs_c": "n.23G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -5,
"transcript": "ENST00000415423.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 238,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " type B1,Autosomal recessive limb-girdle muscular dystrophy type 2K,Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability),Walker-Warburg congenital muscular dystrophy,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "I",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001077365.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1986C>T",
"hgvs_p": "p.Ile662Ile",
"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": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "I",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2172,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000402686.8",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1986C>T",
"hgvs_p": "p.Ile662Ile",
"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": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "I",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3252,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2052,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000372228.9",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.2052C>T",
"hgvs_p": "p.Ile684Ile",
"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": "I",
"aa_end": null,
"aa_length": 744,
"aa_ref": "I",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 2235,
"cds_start": 2043,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000423007.6",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.2043C>T",
"hgvs_p": "p.Ile681Ile",
"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": "*",
"aa_end": null,
"aa_length": 745,
"aa_ref": "Q",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2238,
"cds_start": 2053,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000955371.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.2053C>T",
"hgvs_p": "p.Gln685*",
"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": "*",
"aa_end": null,
"aa_length": 720,
"aa_ref": "Q",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3016,
"cdna_start": 1991,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1831,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000851501.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1831C>T",
"hgvs_p": "p.Gln611*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521560.1",
"strand": true,
"transcript": "ENST00000851501.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "I",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3363,
"cdna_start": 2478,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2052,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001353193.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.2052C>T",
"hgvs_p": "p.Ile684Ile",
"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": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "I",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3123,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2052,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_007171.4",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.2052C>T",
"hgvs_p": "p.Ile684Ile",
"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": "I",
"aa_end": null,
"aa_length": 747,
"aa_ref": "I",
"aa_start": 684,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3280,
"cdna_start": 2391,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2052,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000955372.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.2052C>T",
"hgvs_p": "p.Ile684Ile",
"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": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "I",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3297,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001136113.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1986C>T",
"hgvs_p": "p.Ile662Ile",
"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": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "I",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 2424,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000676640.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1986C>T",
"hgvs_p": "p.Ile662Ile",
"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": "I",
"aa_end": null,
"aa_length": 725,
"aa_ref": "I",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 2352,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1986,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000929070.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1986C>T",
"hgvs_p": "p.Ile662Ile",
"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": "I",
"aa_end": null,
"aa_length": 721,
"aa_ref": "I",
"aa_start": 658,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3055,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1974,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001374689.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1974C>T",
"hgvs_p": "p.Ile658Ile",
"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": "I",
"aa_end": null,
"aa_length": 705,
"aa_ref": "I",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1926,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000851502.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1926C>T",
"hgvs_p": "p.Ile642Ile",
"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": "I",
"aa_end": null,
"aa_length": 695,
"aa_ref": "I",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 2082,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001353196.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1896C>T",
"hgvs_p": "p.Ile632Ile",
"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": "I",
"aa_end": null,
"aa_length": 695,
"aa_ref": "I",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2573,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000678303.1",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1896C>T",
"hgvs_p": "p.Ile632Ile",
"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": "I",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1890,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001353197.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1890C>T",
"hgvs_p": "p.Ile630Ile",
"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": "I",
"aa_end": null,
"aa_length": 693,
"aa_ref": "I",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3672,
"cdna_start": 2787,
"cds_end": null,
"cds_length": 2082,
"cds_start": 1890,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001353198.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1890C>T",
"hgvs_p": "p.Ile630Ile",
"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": "I",
"aa_end": null,
"aa_length": 671,
"aa_ref": "I",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2905,
"cdna_start": 2020,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1824,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001077366.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Ile608Ile",
"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": "I",
"aa_end": null,
"aa_length": 671,
"aa_ref": "I",
"aa_start": 608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3145,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2016,
"cds_start": 1824,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001353194.2",
"gene_hgnc_id": 9202,
"gene_symbol": "POMT1",
"hgvs_c": "c.1824C>T",
"hgvs_p": "p.Ile608Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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