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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: 12-9076800-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=9076800&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "A2M",
"hgnc_id": 7,
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_000014.6",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KLRG1",
"hgnc_id": 6380,
"hgvs_c": "c.*33+18634C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "XM_017018684.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1148,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5217900276184082,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4425,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_000014.6",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000318602.12",
"protein_coding": true,
"protein_id": "NP_000005.3",
"strand": false,
"transcript": "NM_000014.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4425,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000318602.12",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000014.6",
"protein_coding": true,
"protein_id": "ENSP00000323929.8",
"strand": false,
"transcript": "ENST00000318602.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1520,
"aa_ref": "R",
"aa_start": 1209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4742,
"cdna_start": 3696,
"cds_end": null,
"cds_length": 4563,
"cds_start": 3626,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000891833.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3626G>C",
"hgvs_p": "p.Arg1209Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561892.1",
"strand": false,
"transcript": "ENST00000891833.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1501,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4506,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000956132.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626191.1",
"strand": false,
"transcript": "ENST00000956132.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1484,
"aa_ref": "R",
"aa_start": 1173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 3588,
"cds_end": null,
"cds_length": 4455,
"cds_start": 3518,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000956134.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3518G>C",
"hgvs_p": "p.Arg1173Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626193.1",
"strand": false,
"transcript": "ENST00000956134.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4659,
"cdna_start": 3607,
"cds_end": null,
"cds_length": 4425,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001347423.2",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334352.2",
"strand": false,
"transcript": "NM_001347423.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1474,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"cdna_start": 3601,
"cds_end": null,
"cds_length": 4425,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000891824.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561883.1",
"strand": false,
"transcript": "ENST00000891824.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1473,
"aa_ref": "R",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4607,
"cdna_start": 3555,
"cds_end": null,
"cds_length": 4422,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000891825.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3485G>C",
"hgvs_p": "p.Arg1162Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561884.1",
"strand": false,
"transcript": "ENST00000891825.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "R",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 4416,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000891834.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3479G>C",
"hgvs_p": "p.Arg1160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561893.1",
"strand": false,
"transcript": "ENST00000891834.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1471,
"aa_ref": "R",
"aa_start": 1160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4601,
"cdna_start": 3549,
"cds_end": null,
"cds_length": 4416,
"cds_start": 3479,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000956135.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3479G>C",
"hgvs_p": "p.Arg1160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626194.1",
"strand": false,
"transcript": "ENST00000956135.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1467,
"aa_ref": "R",
"aa_start": 1156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": 3537,
"cds_end": null,
"cds_length": 4404,
"cds_start": 3467,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000891829.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3467G>C",
"hgvs_p": "p.Arg1156Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561888.1",
"strand": false,
"transcript": "ENST00000891829.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1461,
"aa_ref": "R",
"aa_start": 1150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4571,
"cdna_start": 3519,
"cds_end": null,
"cds_length": 4386,
"cds_start": 3449,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000956133.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3449G>C",
"hgvs_p": "p.Arg1150Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626192.1",
"strand": false,
"transcript": "ENST00000956133.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1425,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4459,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4278,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000891830.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561889.1",
"strand": false,
"transcript": "ENST00000891830.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1420,
"aa_ref": "R",
"aa_start": 1109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4443,
"cdna_start": 3396,
"cds_end": null,
"cds_length": 4263,
"cds_start": 3326,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000956136.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3326G>C",
"hgvs_p": "p.Arg1109Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626195.1",
"strand": false,
"transcript": "ENST00000956136.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "R",
"aa_start": 1104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4433,
"cdna_start": 3381,
"cds_end": null,
"cds_length": 4248,
"cds_start": 3311,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000891826.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3311G>C",
"hgvs_p": "p.Arg1104Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561885.1",
"strand": false,
"transcript": "ENST00000891826.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1402,
"aa_ref": "R",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 4209,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000891832.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3488G>C",
"hgvs_p": "p.Arg1163Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561891.1",
"strand": false,
"transcript": "ENST00000891832.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1398,
"aa_ref": "R",
"aa_start": 1087,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4378,
"cdna_start": 3330,
"cds_end": null,
"cds_length": 4197,
"cds_start": 3260,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000891831.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3260G>C",
"hgvs_p": "p.Arg1087Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561890.1",
"strand": false,
"transcript": "ENST00000891831.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1374,
"aa_ref": "R",
"aa_start": 1063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4763,
"cdna_start": 3711,
"cds_end": null,
"cds_length": 4125,
"cds_start": 3188,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001347424.2",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3188G>C",
"hgvs_p": "p.Arg1063Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334353.2",
"strand": false,
"transcript": "NM_001347424.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "R",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 3162,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000891827.1",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3092G>C",
"hgvs_p": "p.Arg1031Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561886.1",
"strand": false,
"transcript": "ENST00000891827.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1324,
"aa_ref": "R",
"aa_start": 1013,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4450,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 3975,
"cds_start": 3038,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001347425.2",
"gene_hgnc_id": 7,
"gene_symbol": "A2M",
"hgvs_c": "c.3038G>C",
"hgvs_p": "p.Arg1013Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334354.2",
"strand": false,
"transcript": "NM_001347425.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1285,
"aa_ref": "R",
"aa_start": 974,
"biotype": "protein_coding",
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