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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: X-48802684-TCCTCAACTATGA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=48802684&ref=TCCTCAACTATGA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 48802684,
"ref": "TCCTCAACTATGA",
"alt": "T",
"effect": "start_lost,conservative_inframe_deletion",
"transcript": "NM_006044.4",
"consequences": [
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "NM_006044.4",
"protein_id": "NP_006035.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334136.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006044.4"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000334136.11",
"protein_id": "ENSP00000334061.5",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006044.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334136.11"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000376619.7",
"protein_id": "ENSP00000365804.2",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376619.7"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000462730.5",
"protein_id": "ENSP00000496727.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 146,
"cds_start": 1,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462730.5"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000465269.6",
"protein_id": "ENSP00000494447.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 146,
"cds_start": 1,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465269.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": null,
"transcript": "NM_006044.4",
"protein_id": "NP_006035.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": null,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334136.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006044.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": null,
"transcript": "ENST00000334136.11",
"protein_id": "ENSP00000334061.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": null,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006044.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334136.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": null,
"transcript": "ENST00000376619.7",
"protein_id": "ENSP00000365804.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1215,
"cds_start": null,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376619.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": null,
"transcript": "ENST00000462730.5",
"protein_id": "ENSP00000496727.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000462730.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": null,
"transcript": "ENST00000465269.6",
"protein_id": "ENSP00000494447.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 146,
"cds_start": null,
"cds_end": null,
"cds_length": 441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000465269.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "n.118_129delTATGACCTCAAC",
"hgvs_p": null,
"transcript": "ENST00000477528.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477528.5"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000901907.1",
"protein_id": "ENSP00000571966.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1254,
"cds_start": 1,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901907.1"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000901898.1",
"protein_id": "ENSP00000571957.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901898.1"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000901904.1",
"protein_id": "ENSP00000571963.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1221,
"cds_start": 1,
"cds_end": null,
"cds_length": 3666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901904.1"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000901902.1",
"protein_id": "ENSP00000571961.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1219,
"cds_start": 1,
"cds_end": null,
"cds_length": 3660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901902.1"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "NM_001321226.2",
"protein_id": "NP_001308155.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321226.2"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "NM_001321227.2",
"protein_id": "NP_001308156.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321227.2"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "NM_001321228.2",
"protein_id": "NP_001308157.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321228.2"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "NM_001321229.1",
"protein_id": "NP_001308158.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321229.1"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000376610.7",
"protein_id": "ENSP00000365795.3",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376610.7"
},
{
"aa_ref": "MTST",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost",
"conservative_inframe_deletion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC6",
"gene_hgnc_id": 14064,
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del",
"transcript": "ENST00000376643.7",
"protein_id": "ENSP00000365831.3",
"transcript_support_level": 5,
"aa_start": 1,
"aa_end": null,
"aa_length": 1215,
"cds_start": 1,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376643.7"
},
{
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],
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"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.394,
"phylop100way_prediction": "Benign",
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"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
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],
"verdict": "Likely_pathogenic",
"transcript": "NM_006044.4",
"gene_symbol": "HDAC6",
"hgnc_id": 14064,
"effects": [
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"conservative_inframe_deletion"
],
"inheritance_mode": "XL",
"hgvs_c": "c.-1_11delTATGACCTCAAC",
"hgvs_p": "p.Met1_Thr4del"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}