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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: 14-37268659-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=37268659&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "MIPOL1",
"hgnc_id": 21460,
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001388069.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.0674,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05081886053085327,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1329,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001388067.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684589.1",
"protein_coding": true,
"protein_id": "NP_001374996.1",
"strand": true,
"transcript": "NM_001388067.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1329,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000684589.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001388067.1",
"protein_coding": true,
"protein_id": "ENSP00000506738.1",
"strand": true,
"transcript": "ENST00000684589.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7185,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1329,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000327441.11",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333539.7",
"strand": true,
"transcript": "ENST00000327441.11",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 844,
"cds_end": null,
"cds_length": 1329,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396294.7",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379589.2",
"strand": true,
"transcript": "ENST00000396294.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 424,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 781,
"cds_end": null,
"cds_length": 1275,
"cds_start": 160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000556451.5",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.160G>T",
"hgvs_p": "p.Val54Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450479.1",
"strand": true,
"transcript": "ENST00000556451.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 411,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1236,
"cds_start": 160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000539062.6",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.160G>T",
"hgvs_p": "p.Val54Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438319.2",
"strand": true,
"transcript": "ENST00000539062.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 119,
"aa_ref": "V",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 105,
"cds_end": null,
"cds_length": 360,
"cds_start": 103,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000539174.3",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.103G>T",
"hgvs_p": "p.Val35Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511996.1",
"strand": true,
"transcript": "ENST00000539174.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7434,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555870.5",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "n.160G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452478.1",
"strand": true,
"transcript": "ENST00000555870.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 519,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1560,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001388069.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374998.1",
"strand": true,
"transcript": "NM_001388069.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 519,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1560,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000694964.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511967.1",
"strand": true,
"transcript": "ENST00000694964.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 502,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1509,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931731.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601790.1",
"strand": true,
"transcript": "ENST00000931731.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2867,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1470,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000909324.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579383.1",
"strand": true,
"transcript": "ENST00000909324.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 643,
"cds_end": null,
"cds_length": 1470,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909326.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579385.1",
"strand": true,
"transcript": "ENST00000909326.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1470,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000909329.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579388.1",
"strand": true,
"transcript": "ENST00000909329.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 935,
"cds_end": null,
"cds_length": 1470,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971101.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641160.1",
"strand": true,
"transcript": "ENST00000971101.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1470,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971106.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641165.1",
"strand": true,
"transcript": "ENST00000971106.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 658,
"cds_end": null,
"cds_length": 1470,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971108.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641167.1",
"strand": true,
"transcript": "ENST00000971108.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 488,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 849,
"cds_end": null,
"cds_length": 1467,
"cds_start": 160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000694965.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.160G>T",
"hgvs_p": "p.Val54Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511968.1",
"strand": true,
"transcript": "ENST00000694965.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 898,
"cds_end": null,
"cds_length": 1377,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971099.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641158.1",
"strand": true,
"transcript": "ENST00000971099.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 455,
"aa_ref": "V",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1368,
"cds_start": 253,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000909325.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.253G>T",
"hgvs_p": "p.Val85Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579384.1",
"strand": true,
"transcript": "ENST00000909325.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 453,
"aa_ref": "V",
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"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.523,
"pos": 37268659,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.053,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "dbscSNV1_RF",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001388069.1"
}
]
}