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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: 6-43521005-AAAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43521005&ref=AAAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM4_Supporting",
"PP5"
],
"effects": [
"conservative_inframe_deletion"
],
"gene_symbol": "POLR1C",
"hgnc_id": 20194,
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_203290.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM4_Supporting,PP5",
"acmg_score": 4,
"allele_count_reference_population": 22,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Hypomyelinating leukodystrophy 11,Treacher Collins syndrome 3,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:1 O:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1041,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_203290.4",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642195.1",
"protein_coding": true,
"protein_id": "NP_976035.1",
"strand": true,
"transcript": "NM_203290.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1275,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1041,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642195.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203290.4",
"protein_coding": true,
"protein_id": "ENSP00000496044.1",
"strand": true,
"transcript": "ENST00000642195.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1029,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000304004.7",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307212.3",
"strand": true,
"transcript": "ENST00000304004.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 353,
"aa_ref": "K",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1062,
"cds_start": 904,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945270.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.904_906delAAG",
"hgvs_p": "p.Lys302del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615329.1",
"strand": true,
"transcript": "ENST00000945270.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1041,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908069.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578128.1",
"strand": true,
"transcript": "ENST00000908069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": "K",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1038,
"cds_start": 880,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908070.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.880_882delAAG",
"hgvs_p": "p.Lys294del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578129.1",
"strand": true,
"transcript": "ENST00000908070.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": "K",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 938,
"cds_end": null,
"cds_length": 1038,
"cds_start": 880,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930067.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.880_882delAAG",
"hgvs_p": "p.Lys294del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600126.1",
"strand": true,
"transcript": "ENST00000930067.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 343,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1032,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000646433.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494368.1",
"strand": true,
"transcript": "ENST00000646433.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 343,
"aa_ref": "K",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 897,
"cds_end": null,
"cds_length": 1032,
"cds_start": 874,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930069.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.874_876delAAG",
"hgvs_p": "p.Lys292del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600128.1",
"strand": true,
"transcript": "ENST00000930069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1071,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1029,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001318876.2",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305805.1",
"strand": true,
"transcript": "NM_001318876.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1029,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000607635.2",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496683.1",
"strand": true,
"transcript": "ENST00000607635.2",
"transcript_support_level": 6
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1218,
"cdna_start": 847,
"cds_end": null,
"cds_length": 984,
"cds_start": 826,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000908071.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.826_828delAAG",
"hgvs_p": "p.Lys276del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578130.1",
"strand": true,
"transcript": "ENST00000908071.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 327,
"aa_ref": "K",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1218,
"cdna_start": 847,
"cds_end": null,
"cds_length": 984,
"cds_start": 826,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000930070.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.826_828delAAG",
"hgvs_p": "p.Lys276del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600129.1",
"strand": true,
"transcript": "ENST00000930070.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 904,
"cds_end": null,
"cds_length": 924,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001363658.2",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350587.1",
"strand": true,
"transcript": "NM_001363658.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 307,
"aa_ref": "K",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": 887,
"cds_end": null,
"cds_length": 924,
"cds_start": 883,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643341.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.883_885delAAG",
"hgvs_p": "p.Lys295del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496018.1",
"strand": true,
"transcript": "ENST00000643341.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 296,
"aa_ref": "K",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1119,
"cdna_start": 755,
"cds_end": null,
"cds_length": 891,
"cds_start": 733,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372344.6",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.733_735delAAG",
"hgvs_p": "p.Lys245del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361419.2",
"strand": true,
"transcript": "ENST00000372344.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 296,
"aa_ref": "K",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1085,
"cdna_start": 754,
"cds_end": null,
"cds_length": 891,
"cds_start": 733,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643799.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.733_735delAAG",
"hgvs_p": "p.Lys245del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494529.1",
"strand": true,
"transcript": "ENST00000643799.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 295,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 755,
"cds_end": null,
"cds_length": 888,
"cds_start": 730,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930068.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.730_732delAAG",
"hgvs_p": "p.Lys244del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600127.1",
"strand": true,
"transcript": "ENST00000930068.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 295,
"aa_ref": "K",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 731,
"cds_end": null,
"cds_length": 888,
"cds_start": 730,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930073.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.730_732delAAG",
"hgvs_p": "p.Lys244del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600132.1",
"strand": true,
"transcript": "ENST00000930073.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 291,
"aa_ref": "K",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": 976,
"cds_end": null,
"cds_length": 876,
"cds_start": 718,
"consequences": [
"conservative_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000646188.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.718_720delAAG",
"hgvs_p": "p.Lys240del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496001.1",
"strand": true,
"transcript": "ENST00000646188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 250,
"aa_ref": "K",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 976,
"cdna_start": 605,
"cds_end": null,
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}