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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: 17-74299847-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74299847&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAI2",
"hgnc_id": 18744,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_001353167.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6",
"acmg_score": -1,
"allele_count_reference_population": 484,
"alphamissense_prediction": null,
"alphamissense_score": 0.419,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Primary ciliary dyskinesia,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6725430488586426,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_023036.6",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311014.11",
"protein_coding": true,
"protein_id": "NP_075462.3",
"strand": true,
"transcript": "NM_023036.6",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000311014.11",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023036.6",
"protein_coding": true,
"protein_id": "ENSP00000308312.6",
"strand": true,
"transcript": "ENST00000311014.11",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 662,
"aa_ref": "T",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1025,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579490.5",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1025C>T",
"hgvs_p": "p.Thr342Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464197.1",
"strand": true,
"transcript": "ENST00000579490.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1160,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000446837.2",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400252.2",
"strand": true,
"transcript": "ENST00000446837.2",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 593,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1782,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000582036.5",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461950.1",
"strand": true,
"transcript": "ENST00000582036.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 649,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1950,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001353167.2",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340096.1",
"strand": true,
"transcript": "NM_001353167.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856951.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527010.1",
"strand": true,
"transcript": "ENST00000856951.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856952.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527011.1",
"strand": true,
"transcript": "ENST00000856952.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856953.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527012.1",
"strand": true,
"transcript": "ENST00000856953.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 978,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856954.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527013.1",
"strand": true,
"transcript": "ENST00000856954.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 915,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856955.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527014.1",
"strand": true,
"transcript": "ENST00000856955.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 605,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1818,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000962604.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632663.1",
"strand": true,
"transcript": "ENST00000962604.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 593,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 974,
"cds_end": null,
"cds_length": 1782,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001172810.3",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166281.1",
"strand": true,
"transcript": "NM_001172810.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 567,
"aa_ref": "T",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1704,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927504.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.740C>T",
"hgvs_p": "p.Thr247Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597563.1",
"strand": true,
"transcript": "ENST00000927504.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 649,
"aa_ref": "T",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1950,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011525125.3",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Thr285Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523427.1",
"strand": true,
"transcript": "XM_011525125.3",
"transcript_support_level": null
},
{
"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": 1993,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579055.5",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.*225C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462767.1",
"strand": true,
"transcript": "ENST00000579055.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_148379.2",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.855C>T",
"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": "NR_148379.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XR_007065388.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.1050C>T",
"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": "XR_007065388.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2421,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XR_007065389.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.974C>T",
"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": "XR_007065389.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XR_007065390.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.948C>T",
"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": "XR_007065390.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XR_007065391.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.951C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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