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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: 4-7967042-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=7967042&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ABLIM2",
"hgnc_id": 19195,
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001130083.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1724,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4978325664997101,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1886,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001130083.2",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000447017.7",
"protein_coding": true,
"protein_id": "NP_001123555.1",
"strand": false,
"transcript": "NM_001130083.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 645,
"aa_ref": "R",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3725,
"cdna_start": 2010,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1886,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000447017.7",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1886G>A",
"hgvs_p": "p.Arg629His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130083.2",
"protein_coding": true,
"protein_id": "ENSP00000393511.2",
"strand": false,
"transcript": "ENST00000447017.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000341937.9",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342813.5",
"strand": false,
"transcript": "ENST00000341937.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000361581.9",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355003.5",
"strand": false,
"transcript": "ENST00000361581.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000407564.7",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384658.3",
"strand": false,
"transcript": "ENST00000407564.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 669,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3845,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2058,
"cds_start": 2006,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000710854.1",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.2006G>A",
"hgvs_p": "p.Arg669His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518527.1",
"strand": false,
"transcript": "ENST00000710854.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 650,
"aa_ref": "R",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2986,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000545242.6",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1901G>A",
"hgvs_p": "p.Arg634His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441255.3",
"strand": false,
"transcript": "ENST00000545242.6",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 627,
"aa_ref": "R",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": 1931,
"cds_end": null,
"cds_length": 1884,
"cds_start": 1832,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000676532.1",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1832G>A",
"hgvs_p": "p.Arg611His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504601.1",
"strand": false,
"transcript": "ENST00000676532.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001130084.2",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Arg595His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123556.1",
"strand": false,
"transcript": "NM_001130084.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001130085.2",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Arg556His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123557.1",
"strand": false,
"transcript": "NM_001130085.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3467,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001130086.2",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123558.1",
"strand": false,
"transcript": "NM_001130086.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 559,
"aa_ref": "R",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1628,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000505872.5",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421283.1",
"strand": false,
"transcript": "ENST00000505872.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3383,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001130087.2",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001123559.1",
"strand": false,
"transcript": "NM_001130087.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3396,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1544,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000361737.9",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354887.5",
"strand": false,
"transcript": "ENST00000361737.9",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 521,
"aa_ref": "R",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3353,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1514,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_032432.5",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Arg505His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_115808.3",
"strand": false,
"transcript": "NM_032432.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2978,
"cdna_start": 1263,
"cds_end": null,
"cds_length": 1041,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001286688.2",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273617.1",
"strand": false,
"transcript": "NM_001286688.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 346,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2974,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1041,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000514025.5",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.989G>A",
"hgvs_p": "p.Arg330His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423661.1",
"strand": false,
"transcript": "ENST00000514025.5",
"transcript_support_level": 2
},
{
"aa_alt": "H",
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"aa_length": 742,
"aa_ref": "R",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 2266,
"cds_end": null,
"cds_length": 2229,
"cds_start": 2177,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047416297.1",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.2177G>A",
"hgvs_p": "p.Arg726His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272253.1",
"strand": false,
"transcript": "XM_047416297.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 2226,
"cds_start": 2174,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047416298.1",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.2174G>A",
"hgvs_p": "p.Arg725His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272254.1",
"strand": false,
"transcript": "XM_047416298.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 737,
"aa_ref": "R",
"aa_start": 721,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2286,
"cds_end": null,
"cds_length": 2214,
"cds_start": 2162,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_047416299.1",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.2162G>A",
"hgvs_p": "p.Arg721His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272255.1",
"strand": false,
"transcript": "XM_047416299.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 2233,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2144,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "XM_047416300.1",
"gene_hgnc_id": 19195,
"gene_symbol": "ABLIM2",
"hgvs_c": "c.2144G>A",
"hgvs_p": "p.Arg715His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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