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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: 3-100753833-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=100753833&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": "ABI3BP",
"hgnc_id": 17265,
"hgvs_c": "c.4946G>A",
"hgvs_p": "p.Ser1649Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001375547.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.631,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "3",
"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": 0.6537143588066101,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "S",
"aa_start": 1649,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": 4983,
"cds_end": null,
"cds_length": 5361,
"cds_start": 4946,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 65,
"exon_rank_end": null,
"feature": "NM_001375547.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4946G>A",
"hgvs_p": "p.Ser1649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000471714.6",
"protein_coding": true,
"protein_id": "NP_001362476.1",
"strand": false,
"transcript": "NM_001375547.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1786,
"aa_ref": "S",
"aa_start": 1649,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": 4983,
"cds_end": null,
"cds_length": 5361,
"cds_start": 4946,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 65,
"exon_rank_end": null,
"feature": "ENST00000471714.6",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4946G>A",
"hgvs_p": "p.Ser1649Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375547.2",
"protein_coding": true,
"protein_id": "ENSP00000420524.2",
"strand": false,
"transcript": "ENST00000471714.6",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "S",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4498,
"cdna_start": 2923,
"cds_end": null,
"cds_length": 3207,
"cds_start": 2792,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000284322.10",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.2792G>A",
"hgvs_p": "p.Ser931Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000284322.6",
"strand": false,
"transcript": "ENST00000284322.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000470336.5",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "n.1409G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470336.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1793,
"aa_ref": "S",
"aa_start": 1656,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6737,
"cdna_start": 4983,
"cds_end": null,
"cds_length": 5382,
"cds_start": 4967,
"consequences": [
"missense_variant"
],
"exon_count": 68,
"exon_rank": 65,
"exon_rank_end": null,
"feature": "ENST00000710654.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4967G>A",
"hgvs_p": "p.Ser1656Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000518403.1",
"strand": false,
"transcript": "ENST00000710654.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1772,
"aa_ref": "S",
"aa_start": 1635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6516,
"cdna_start": 4941,
"cds_end": null,
"cds_length": 5319,
"cds_start": 4904,
"consequences": [
"missense_variant"
],
"exon_count": 67,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_001375550.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4904G>A",
"hgvs_p": "p.Ser1635Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362479.1",
"strand": false,
"transcript": "NM_001375550.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1770,
"aa_ref": "S",
"aa_start": 1633,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6689,
"cdna_start": 4935,
"cds_end": null,
"cds_length": 5313,
"cds_start": 4898,
"consequences": [
"missense_variant"
],
"exon_count": 67,
"exon_rank": 64,
"exon_rank_end": null,
"feature": "NM_001375549.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4898G>A",
"hgvs_p": "p.Ser1633Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362478.1",
"strand": false,
"transcript": "NM_001375549.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1715,
"aa_ref": "S",
"aa_start": 1578,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6345,
"cdna_start": 4770,
"cds_end": null,
"cds_length": 5148,
"cds_start": 4733,
"consequences": [
"missense_variant"
],
"exon_count": 65,
"exon_rank": 62,
"exon_rank_end": null,
"feature": "NM_001349329.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4733G>A",
"hgvs_p": "p.Ser1578Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336258.2",
"strand": false,
"transcript": "NM_001349329.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1677,
"aa_ref": "S",
"aa_start": 1540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6268,
"cdna_start": 4693,
"cds_end": null,
"cds_length": 5034,
"cds_start": 4619,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000882230.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4619G>A",
"hgvs_p": "p.Ser1540Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552289.1",
"strand": false,
"transcript": "ENST00000882230.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1651,
"aa_ref": "S",
"aa_start": 1514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6383,
"cdna_start": 4629,
"cds_end": null,
"cds_length": 4956,
"cds_start": 4541,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "ENST00000882203.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4541G>A",
"hgvs_p": "p.Ser1514Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552262.1",
"strand": false,
"transcript": "ENST00000882203.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1645,
"aa_ref": "S",
"aa_start": 1508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6135,
"cdna_start": 4560,
"cds_end": null,
"cds_length": 4938,
"cds_start": 4523,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 59,
"exon_rank_end": null,
"feature": "NM_001349330.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4523G>A",
"hgvs_p": "p.Ser1508Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336259.2",
"strand": false,
"transcript": "NM_001349330.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "S",
"aa_start": 1427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 4362,
"cds_end": null,
"cds_length": 4695,
"cds_start": 4280,
"consequences": [
"missense_variant"
],
"exon_count": 58,
"exon_rank": 55,
"exon_rank_end": null,
"feature": "ENST00000882239.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4280G>A",
"hgvs_p": "p.Ser1427Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552298.1",
"strand": false,
"transcript": "ENST00000882239.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1537,
"aa_ref": "S",
"aa_start": 1400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5990,
"cdna_start": 4236,
"cds_end": null,
"cds_length": 4614,
"cds_start": 4199,
"consequences": [
"missense_variant"
],
"exon_count": 57,
"exon_rank": 54,
"exon_rank_end": null,
"feature": "NM_001377332.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.4199G>A",
"hgvs_p": "p.Ser1400Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364261.1",
"strand": false,
"transcript": "NM_001377332.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1380,
"aa_ref": "S",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5417,
"cdna_start": 3842,
"cds_end": null,
"cds_length": 4143,
"cds_start": 3728,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000882206.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3728G>A",
"hgvs_p": "p.Ser1243Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552265.1",
"strand": false,
"transcript": "ENST00000882206.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1344,
"aa_ref": "S",
"aa_start": 1207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5232,
"cdna_start": 3657,
"cds_end": null,
"cds_length": 4035,
"cds_start": 3620,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001365642.2",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3620G>A",
"hgvs_p": "p.Ser1207Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352571.2",
"strand": false,
"transcript": "NM_001365642.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1273,
"aa_ref": "S",
"aa_start": 1136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5013,
"cdna_start": 3438,
"cds_end": null,
"cds_length": 3822,
"cds_start": 3407,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000882237.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3407G>A",
"hgvs_p": "p.Ser1136Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552296.1",
"strand": false,
"transcript": "ENST00000882237.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1246,
"aa_ref": "S",
"aa_start": 1109,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5178,
"cdna_start": 3424,
"cds_end": null,
"cds_length": 3741,
"cds_start": 3326,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000882199.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3326G>A",
"hgvs_p": "p.Ser1109Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552258.1",
"strand": false,
"transcript": "ENST00000882199.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "S",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4946,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3708,
"cds_start": 3293,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000950966.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Ser1098Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621025.1",
"strand": false,
"transcript": "ENST00000950966.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "S",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4929,
"cdna_start": 3356,
"cds_end": null,
"cds_length": 3699,
"cds_start": 3284,
"consequences": [
"missense_variant"
],
"exon_count": 42,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000950971.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3284G>A",
"hgvs_p": "p.Ser1095Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621030.1",
"strand": false,
"transcript": "ENST00000950971.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1228,
"aa_ref": "S",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4933,
"cdna_start": 3360,
"cds_end": null,
"cds_length": 3687,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000882219.1",
"gene_hgnc_id": 17265,
"gene_symbol": "ABI3BP",
"hgvs_c": "c.3272G>A",
"hgvs_p": "p.Ser1091Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552278.1",
"strand": false,
"transcript": "ENST00000882219.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "S",
"aa_start": 1085,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 3291,
"cds_end": null,
"cds_length": 3669,
"cds_start": 3254,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 40,
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