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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: 13-20631053-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20631053&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IFT88",
"hgnc_id": 20606,
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_175605.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 1186742,
"alphamissense_prediction": null,
"alphamissense_score": 0.1941,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "13",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0000018165530946134822,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_006531.5",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000351808.10",
"protein_coding": true,
"protein_id": "NP_006522.2",
"strand": true,
"transcript": "NM_006531.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000351808.10",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006531.5",
"protein_coding": true,
"protein_id": "ENSP00000261632.5",
"strand": true,
"transcript": "ENST00000351808.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3091,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000319980.10",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000323580.6",
"strand": true,
"transcript": "ENST00000319980.10",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3178,
"cdna_start": 1771,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001318493.2",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305422.1",
"strand": true,
"transcript": "NM_001318493.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001353565.2",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340494.1",
"strand": true,
"transcript": "NM_001353565.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001353566.2",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340495.1",
"strand": true,
"transcript": "NM_001353566.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001353567.2",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340496.1",
"strand": true,
"transcript": "NM_001353567.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 833,
"aa_ref": "S",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3079,
"cdna_start": 1672,
"cds_end": null,
"cds_length": 2502,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_175605.5",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1364G>A",
"hgvs_p": "p.Ser455Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_783195.2",
"strand": true,
"transcript": "NM_175605.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001353568.2",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340497.1",
"strand": true,
"transcript": "NM_001353568.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2984,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894242.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564301.1",
"strand": true,
"transcript": "ENST00000894242.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894243.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564302.1",
"strand": true,
"transcript": "ENST00000894243.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000894245.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564304.1",
"strand": true,
"transcript": "ENST00000894245.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1699,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000894248.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564307.1",
"strand": true,
"transcript": "ENST00000894248.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2945,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000894252.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564311.1",
"strand": true,
"transcript": "ENST00000894252.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 824,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000894254.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564313.1",
"strand": true,
"transcript": "ENST00000894254.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2694,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000894261.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564320.1",
"strand": true,
"transcript": "ENST00000894261.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1409,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000927832.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597891.1",
"strand": true,
"transcript": "ENST00000927832.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
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"aa_length": 824,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000950099.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620158.1",
"strand": true,
"transcript": "ENST00000950099.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1462,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000950105.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620164.1",
"strand": true,
"transcript": "ENST00000950105.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2953,
"cdna_start": 1626,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950106.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Ser446Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620165.1",
"strand": true,
"transcript": "ENST00000950106.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 824,
"aa_ref": "S",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 2475,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000950115.1",
"gene_hgnc_id": 20606,
"gene_symbol": "IFT88",
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