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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: 11-792367-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=792367&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC25A22",
"hgnc_id": 19954,
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001425334.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1",
"acmg_score": -6,
"allele_count_reference_population": 85,
"alphamissense_prediction": null,
"alphamissense_score": 0.1874,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Developmental and epileptic encephalopathy,Developmental delay,Inborn genetic diseases,Macrocephaly,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07327631115913391,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 907,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001191061.2",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000628067.3",
"protein_coding": true,
"protein_id": "NP_001177990.1",
"strand": false,
"transcript": "NM_001191061.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 907,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000628067.3",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001191061.2",
"protein_coding": true,
"protein_id": "ENSP00000486058.1",
"strand": false,
"transcript": "ENST00000628067.3",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000320230.9",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322020.5",
"strand": false,
"transcript": "ENST00000320230.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 348,
"aa_ref": "V",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1047,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425334.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412263.1",
"strand": false,
"transcript": "NM_001425334.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 348,
"aa_ref": "V",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2697,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1047,
"cds_start": 754,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860087.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.754G>A",
"hgvs_p": "p.Val252Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530146.1",
"strand": false,
"transcript": "ENST00000860087.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 336,
"aa_ref": "V",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2679,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1011,
"cds_start": 718,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425335.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412264.1",
"strand": false,
"transcript": "NM_001425335.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 328,
"aa_ref": "V",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 922,
"cds_end": null,
"cds_length": 987,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425336.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.694G>A",
"hgvs_p": "p.Val232Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412265.1",
"strand": false,
"transcript": "NM_001425336.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 327,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2613,
"cdna_start": 871,
"cds_end": null,
"cds_length": 984,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948531.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618590.1",
"strand": false,
"transcript": "ENST00000948531.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2962,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001191060.2",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177989.1",
"strand": false,
"transcript": "NM_001191060.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2668,
"cdna_start": 935,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425337.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412266.1",
"strand": false,
"transcript": "NM_001425337.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001425338.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412267.1",
"strand": false,
"transcript": "NM_001425338.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 902,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425339.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412268.1",
"strand": false,
"transcript": "NM_001425339.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 1038,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_024698.6",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078974.1",
"strand": false,
"transcript": "NM_024698.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000531214.5",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437236.1",
"strand": false,
"transcript": "ENST00000531214.5",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": 937,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860084.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530143.1",
"strand": false,
"transcript": "ENST00000860084.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2738,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860086.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530145.1",
"strand": false,
"transcript": "ENST00000860086.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860088.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530147.1",
"strand": false,
"transcript": "ENST00000860088.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2937,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860089.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530148.1",
"strand": false,
"transcript": "ENST00000860089.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 875,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860091.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530150.1",
"strand": false,
"transcript": "ENST00000860091.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2662,
"cdna_start": 930,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860092.1",
"gene_hgnc_id": 19954,
"gene_symbol": "SLC25A22",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Val227Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530151.1",
"strand": false,
"transcript": "ENST00000860092.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 323,
"aa_ref": "V",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2590,
"cdna_start": 861,
"cds_end": null,
"cds_length": 972,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
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