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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: 6-31639162-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31639162&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BAG6",
"hgnc_id": 13919,
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001388012.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 144,
"alphamissense_prediction": null,
"alphamissense_score": 0.0948,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14375600218772888,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 3709,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001387994.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000676615.2",
"protein_coding": true,
"protein_id": "NP_001374923.1",
"strand": false,
"transcript": "NM_001387994.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3843,
"cdna_start": 3709,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000676615.2",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001387994.1",
"protein_coding": true,
"protein_id": "ENSP00000502941.1",
"strand": false,
"transcript": "ENST00000676615.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "N",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 3645,
"cds_end": null,
"cds_length": 3381,
"cds_start": 3350,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000211379.9",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3350A>G",
"hgvs_p": "p.Asn1117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000211379.5",
"strand": false,
"transcript": "ENST00000211379.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "N",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 3510,
"cds_end": null,
"cds_length": 3381,
"cds_start": 3350,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000375976.8",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3350A>G",
"hgvs_p": "p.Asn1117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365143.4",
"strand": false,
"transcript": "ENST00000375976.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "N",
"aa_start": 1091,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3701,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 3303,
"cds_start": 3272,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000375964.11",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3272A>G",
"hgvs_p": "p.Asn1091Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365131.6",
"strand": false,
"transcript": "ENST00000375964.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "N",
"aa_start": 1189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 3698,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3566,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000888860.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3566A>G",
"hgvs_p": "p.Asn1189Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558919.1",
"strand": false,
"transcript": "ENST00000888860.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "N",
"aa_start": 1168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 3605,
"cds_end": null,
"cds_length": 3534,
"cds_start": 3503,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000921988.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3503A>G",
"hgvs_p": "p.Asn1168Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592047.1",
"strand": false,
"transcript": "ENST00000921988.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "N",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 3786,
"cds_end": null,
"cds_length": 3522,
"cds_start": 3491,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000676571.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3491A>G",
"hgvs_p": "p.Asn1164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504005.1",
"strand": false,
"transcript": "ENST00000676571.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "N",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 3652,
"cds_end": null,
"cds_length": 3522,
"cds_start": 3491,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888849.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3491A>G",
"hgvs_p": "p.Asn1164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558908.1",
"strand": false,
"transcript": "ENST00000888849.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "N",
"aa_start": 1164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 3726,
"cds_end": null,
"cds_length": 3522,
"cds_start": 3491,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000921978.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3491A>G",
"hgvs_p": "p.Asn1164Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592037.1",
"strand": false,
"transcript": "ENST00000921978.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "N",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3860,
"cdna_start": 3739,
"cds_end": null,
"cds_length": 3519,
"cds_start": 3488,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000921981.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3488A>G",
"hgvs_p": "p.Asn1163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592040.1",
"strand": false,
"transcript": "ENST00000921981.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "N",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3776,
"cdna_start": 3642,
"cds_end": null,
"cds_length": 3516,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001388012.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374941.1",
"strand": false,
"transcript": "NM_001388012.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "N",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": 3744,
"cds_end": null,
"cds_length": 3516,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888817.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558876.1",
"strand": false,
"transcript": "ENST00000888817.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1171,
"aa_ref": "N",
"aa_start": 1162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 3645,
"cds_end": null,
"cds_length": 3516,
"cds_start": 3485,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888847.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3485A>G",
"hgvs_p": "p.Asn1162Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558906.1",
"strand": false,
"transcript": "ENST00000888847.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "N",
"aa_start": 1155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3746,
"cdna_start": 3625,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3464,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888855.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3464A>G",
"hgvs_p": "p.Asn1155Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558914.1",
"strand": false,
"transcript": "ENST00000888855.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3620,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001387989.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374918.1",
"strand": false,
"transcript": "NM_001387989.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3867,
"cdna_start": 3733,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001387996.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374925.1",
"strand": false,
"transcript": "NM_001387996.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 3615,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001388011.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374940.1",
"strand": false,
"transcript": "NM_001388011.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 3777,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001388020.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374949.1",
"strand": false,
"transcript": "NM_001388020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3854,
"cdna_start": 3733,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000888826.1",
"gene_hgnc_id": 13919,
"gene_symbol": "BAG6",
"hgvs_c": "c.3458A>G",
"hgvs_p": "p.Asn1153Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558885.1",
"strand": false,
"transcript": "ENST00000888826.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1162,
"aa_ref": "N",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 3620,
"cds_end": null,
"cds_length": 3489,
"cds_start": 3458,
"consequences": [
"missense_variant"
],
"exon_count": 26,
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