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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: 15-72731457-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72731457&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PP3",
"BP6"
],
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"gene_symbol": "BBS4",
"hgnc_id": 969,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Ala288Ala",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": 0,
"transcript": "NM_033028.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3,BP6",
"acmg_score": 0,
"allele_count_reference_population": 250,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "15",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 4,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4099999964237213,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1560,
"cds_start": 864,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_033028.5",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Ala288Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268057.9",
"protein_coding": true,
"protein_id": "NP_149017.2",
"strand": true,
"transcript": "NM_033028.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 519,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1560,
"cds_start": 864,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000268057.9",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Ala288Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033028.5",
"protein_coding": true,
"protein_id": "ENSP00000268057.4",
"strand": true,
"transcript": "ENST00000268057.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2038,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1044,
"cds_start": 348,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000395205.7",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Ala116Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378631.3",
"strand": true,
"transcript": "ENST00000395205.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": 859,
"cds_end": null,
"cds_length": 1044,
"cds_start": 348,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000566400.6",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Ala116Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456759.2",
"strand": true,
"transcript": "ENST00000566400.6",
"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": 1864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000562084.5",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "n.*943G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454718.1",
"strand": true,
"transcript": "ENST00000562084.5",
"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": 1004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000562219.1",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "n.299G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000562219.1",
"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": 1864,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000562084.5",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "n.*943G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454718.1",
"strand": true,
"transcript": "ENST00000562084.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 531,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1596,
"cds_start": 864,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000566197.2",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Ala288Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457479.2",
"strand": true,
"transcript": "ENST00000566197.2",
"transcript_support_level": 3
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 527,
"aa_ref": "A",
"aa_start": 296,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2268,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 1584,
"cds_start": 888,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000566829.2",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.888G>A",
"hgvs_p": "p.Ala296Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455958.2",
"strand": true,
"transcript": "ENST00000566829.2",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 514,
"aa_ref": "A",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1545,
"cds_start": 849,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000939792.1",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.849G>A",
"hgvs_p": "p.Ala283Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609851.1",
"strand": true,
"transcript": "ENST00000939792.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 816,
"cds_end": null,
"cds_length": 1491,
"cds_start": 795,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001320665.2",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Ala265Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307594.1",
"strand": true,
"transcript": "NM_001320665.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5910,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1491,
"cds_start": 795,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000569338.6",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.795G>A",
"hgvs_p": "p.Ala265Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456758.2",
"strand": true,
"transcript": "ENST00000569338.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 421,
"aa_ref": "A",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1266,
"cds_start": 570,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000943719.1",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.570G>A",
"hgvs_p": "p.Ala190Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613778.1",
"strand": true,
"transcript": "ENST00000943719.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 417,
"aa_ref": "A",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1799,
"cdna_start": 581,
"cds_end": null,
"cds_length": 1254,
"cds_start": 558,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000876645.1",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.558G>A",
"hgvs_p": "p.Ala186Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546704.1",
"strand": true,
"transcript": "ENST00000876645.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1044,
"cds_start": 348,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001252678.2",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Ala116Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001239607.1",
"strand": true,
"transcript": "NM_001252678.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1044,
"cds_start": 348,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000718298.1",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Ala116Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520733.1",
"strand": true,
"transcript": "ENST00000718298.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 324,
"aa_ref": "A",
"aa_start": 93,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2280,
"cdna_start": 769,
"cds_end": null,
"cds_length": 975,
"cds_start": 279,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000566938.6",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Ala93Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456463.2",
"strand": true,
"transcript": "ENST00000566938.6",
"transcript_support_level": 4
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 507,
"aa_ref": "A",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2838,
"cdna_start": 1256,
"cds_end": null,
"cds_length": 1524,
"cds_start": 828,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_047432911.1",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.828G>A",
"hgvs_p": "p.Ala276Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288867.1",
"strand": true,
"transcript": "XM_047432911.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 504,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1515,
"cds_start": 819,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017022450.2",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.819G>A",
"hgvs_p": "p.Ala273Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877939.1",
"strand": true,
"transcript": "XM_017022450.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1044,
"cds_start": 348,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017022454.2",
"gene_hgnc_id": 969,
"gene_symbol": "BBS4",
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Ala116Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877943.1",
"strand": true,
"transcript": "XM_017022454.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 347,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
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