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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-101397801-TAAACATTTTAAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101397801&ref=TAAACATTTTAAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101397801,
"ref": "TAAACATTTTAAA",
"alt": "T",
"effect": "frameshift_variant,stop_lost,3_prime_UTR_truncation,exon_loss_variant,splice_region_variant",
"transcript": "NM_000169.3",
"consequences": [
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"3_prime_UTR_truncation",
"exon_loss_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1286_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu429fs",
"transcript": "NM_000169.3",
"protein_id": "NP_000160.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 429,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": "ENST00000218516.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"3_prime_UTR_truncation",
"exon_loss_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1286_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu429fs",
"transcript": "ENST00000218516.4",
"protein_id": "ENSP00000218516.4",
"transcript_support_level": 1,
"aa_start": 429,
"aa_end": null,
"aa_length": 429,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": "NM_000169.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RPL36A-HNRNPH2",
"gene_hgnc_id": 48349,
"hgvs_c": "c.300+2345_300+2356delAAACATTTTAAA",
"hgvs_p": null,
"transcript": "ENST00000409170.3",
"protein_id": "ENSP00000386655.4",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"bidirectional_gene_fusion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL36A-HNRNPH2",
"gene_hgnc_id": 48349,
"hgvs_c": "n.101397802_101397813delAAACATTTTAAA",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"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": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_lost",
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1361_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu454_Ter455delins???",
"transcript": "ENST00000710365.1",
"protein_id": "ENSP00000518234.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 454,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1365,
"cdna_start": 1394,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"3_prime_UTR_truncation",
"exon_loss_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1409_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu470fs",
"transcript": "NM_001406747.1",
"protein_id": "NP_001393676.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 470,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"3_prime_UTR_truncation",
"exon_loss_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1409_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu470fs",
"transcript": "ENST00000649178.1",
"protein_id": "ENSP00000498186.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 470,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1250_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu417fs",
"transcript": "ENST00000676156.1",
"protein_id": "ENSP00000501730.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 417,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1088_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu363fs",
"transcript": "ENST00000675592.1",
"protein_id": "ENSP00000502239.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 363,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L*",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"stop_lost",
"3_prime_UTR_truncation",
"exon_loss_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.728_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu243fs",
"transcript": "XM_047441990.1",
"protein_id": "XP_047297946.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 243,
"cds_start": 728,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1422_*2delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000466414.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.2708_2719delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000468823.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1900_*2delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000479445.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*674_*685delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000493905.6",
"protein_id": "ENSP00000476935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.4157_*5delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000675968.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*539_*550delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000676372.1",
"protein_id": "ENSP00000502805.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1365_*1delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "NR_164783.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1216_*1delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "NR_176252.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.1423_*1delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "NR_176253.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "c.1361_*7delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000710365.1",
"protein_id": "ENSP00000518234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
"hgvs_c": "n.*674_*685delTTTAAAATGTTT",
"hgvs_p": null,
"transcript": "ENST00000493905.6",
"protein_id": "ENSP00000476935.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLA",
"gene_hgnc_id": 4296,
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"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"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": 1.226,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000169.3",
"gene_symbol": "GLA",
"hgnc_id": 4296,
"effects": [
"frameshift_variant",
"stop_lost",
"3_prime_UTR_truncation",
"exon_loss_variant",
"splice_region_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1286_*7delTTTAAAATGTTT",
"hgvs_p": "p.Leu429fs"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409170.3",
"gene_symbol": "RPL36A-HNRNPH2",
"hgnc_id": 48349,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.300+2345_300+2356delAAACATTTTAAA",
"hgvs_p": null
}
],
"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
}