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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: 6-143765344-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=143765344&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHACTR2",
"hgnc_id": 20956,
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Ala260Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001100164.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0656,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "6",
"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": 0.02736806869506836,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 645,
"aa_ref": "A",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9633,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1938,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001100164.2",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Ala260Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000440869.7",
"protein_coding": true,
"protein_id": "NP_001093634.1",
"strand": true,
"transcript": "NM_001100164.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 645,
"aa_ref": "A",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9633,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1938,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440869.7",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.778G>A",
"hgvs_p": "p.Ala260Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001100164.2",
"protein_coding": true,
"protein_id": "ENSP00000417038.2",
"strand": true,
"transcript": "ENST00000440869.7",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "A",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9531,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1905,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000427704.6",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Ala249Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391763.2",
"strand": true,
"transcript": "ENST00000427704.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 565,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4367,
"cdna_start": 719,
"cds_end": null,
"cds_length": 1698,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367582.7",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356554.3",
"strand": true,
"transcript": "ENST00000367582.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 650,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4501,
"cdna_start": 981,
"cds_end": null,
"cds_length": 1953,
"cds_start": 793,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960137.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Ala265Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630196.1",
"strand": true,
"transcript": "ENST00000960137.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 643,
"aa_ref": "A",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 999,
"cds_end": null,
"cds_length": 1932,
"cds_start": 772,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000960142.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Ala258Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630201.1",
"strand": true,
"transcript": "ENST00000960142.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "A",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9531,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1905,
"cds_start": 745,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_014721.3",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Ala249Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055536.2",
"strand": true,
"transcript": "NM_014721.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 622,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9478,
"cdna_start": 822,
"cds_end": null,
"cds_length": 1869,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001394736.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381665.1",
"strand": true,
"transcript": "NM_001394736.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 622,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1869,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367584.8",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356556.4",
"strand": true,
"transcript": "ENST00000367584.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 618,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1857,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960136.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.697G>A",
"hgvs_p": "p.Ala233Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630195.1",
"strand": true,
"transcript": "ENST00000960136.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 589,
"aa_ref": "A",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 778,
"cds_end": null,
"cds_length": 1770,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940786.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610845.1",
"strand": true,
"transcript": "ENST00000940786.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 570,
"aa_ref": "A",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 752,
"cds_end": null,
"cds_length": 1713,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888549.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Ala185Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558608.1",
"strand": true,
"transcript": "ENST00000888549.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 565,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9393,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1698,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001100165.2",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093635.1",
"strand": true,
"transcript": "NM_001100165.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 564,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1695,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888547.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558606.1",
"strand": true,
"transcript": "ENST00000888547.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 563,
"aa_ref": "A",
"aa_start": 178,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3347,
"cdna_start": 718,
"cds_end": null,
"cds_length": 1692,
"cds_start": 532,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960139.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.532G>A",
"hgvs_p": "p.Ala178Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630198.1",
"strand": true,
"transcript": "ENST00000960139.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 562,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2971,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1689,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888546.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Ala180Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558605.1",
"strand": true,
"transcript": "ENST00000888546.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 554,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9291,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1665,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001100166.2",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093636.1",
"strand": true,
"transcript": "NM_001100166.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 554,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 630,
"cds_end": null,
"cds_length": 1665,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000305766.10",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000305530.6",
"strand": true,
"transcript": "ENST00000305766.10",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 545,
"aa_ref": "A",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1638,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888548.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Ala160Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558607.1",
"strand": true,
"transcript": "ENST00000888548.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 538,
"aa_ref": "A",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4197,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1617,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888543.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Ala153Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558602.1",
"strand": true,
"transcript": "ENST00000888543.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 180,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2829,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1560,
"cds_start": 538,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960141.1",
"gene_hgnc_id": 20956,
"gene_symbol": "PHACTR2",
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