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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: 17-67975841-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67975841&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67975841,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000306378.11",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8609T>G",
"hgvs_p": "p.Met2870Arg",
"transcript": "NM_182641.4",
"protein_id": "NP_872579.2",
"transcript_support_level": null,
"aa_start": 2870,
"aa_end": null,
"aa_length": 2920,
"cds_start": 8609,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 8831,
"cdna_end": null,
"cdna_length": 11075,
"mane_select": "ENST00000306378.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8609T>G",
"hgvs_p": "p.Met2870Arg",
"transcript": "ENST00000306378.11",
"protein_id": "ENSP00000307208.6",
"transcript_support_level": 1,
"aa_start": 2870,
"aa_end": null,
"aa_length": 2920,
"cds_start": 8609,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 8831,
"cdna_end": null,
"cdna_length": 11075,
"mane_select": "NM_182641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8423T>G",
"hgvs_p": "p.Met2808Arg",
"transcript": "ENST00000342579.8",
"protein_id": "ENSP00000343837.5",
"transcript_support_level": 1,
"aa_start": 2808,
"aa_end": null,
"aa_length": 2858,
"cds_start": 8423,
"cds_end": null,
"cds_length": 8577,
"cdna_start": 8424,
"cdna_end": null,
"cdna_length": 10607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8141T>G",
"hgvs_p": "p.Met2714Arg",
"transcript": "ENST00000424123.7",
"protein_id": "ENSP00000388405.3",
"transcript_support_level": 1,
"aa_start": 2714,
"aa_end": null,
"aa_length": 2764,
"cds_start": 8141,
"cds_end": null,
"cds_length": 8295,
"cdna_start": 8141,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9323T>G",
"hgvs_p": "p.Met3108Arg",
"transcript": "ENST00000582467.2",
"protein_id": "ENSP00000463776.2",
"transcript_support_level": 5,
"aa_start": 3108,
"aa_end": null,
"aa_length": 3158,
"cds_start": 9323,
"cds_end": null,
"cds_length": 9477,
"cdna_start": 9545,
"cdna_end": null,
"cdna_length": 11789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8987T>G",
"hgvs_p": "p.Met2996Arg",
"transcript": "ENST00000321892.8",
"protein_id": "ENSP00000315454.4",
"transcript_support_level": 5,
"aa_start": 2996,
"aa_end": null,
"aa_length": 3046,
"cds_start": 8987,
"cds_end": null,
"cds_length": 9141,
"cdna_start": 9048,
"cdna_end": null,
"cdna_length": 11292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8852T>G",
"hgvs_p": "p.Met2951Arg",
"transcript": "ENST00000644067.1",
"protein_id": "ENSP00000496182.2",
"transcript_support_level": null,
"aa_start": 2951,
"aa_end": null,
"aa_length": 3001,
"cds_start": 8852,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 8853,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8798T>G",
"hgvs_p": "p.Met2933Arg",
"transcript": "NM_001439139.1",
"protein_id": "NP_001426068.1",
"transcript_support_level": null,
"aa_start": 2933,
"aa_end": null,
"aa_length": 2983,
"cds_start": 8798,
"cds_end": null,
"cds_length": 8952,
"cdna_start": 9020,
"cdna_end": null,
"cdna_length": 11264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8732T>G",
"hgvs_p": "p.Met2911Arg",
"transcript": "NM_001439140.1",
"protein_id": "NP_001426069.1",
"transcript_support_level": null,
"aa_start": 2911,
"aa_end": null,
"aa_length": 2961,
"cds_start": 8732,
"cds_end": null,
"cds_length": 8886,
"cdna_start": 8954,
"cdna_end": null,
"cdna_length": 11198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8705T>G",
"hgvs_p": "p.Met2902Arg",
"transcript": "NM_001439141.1",
"protein_id": "NP_001426070.1",
"transcript_support_level": null,
"aa_start": 2902,
"aa_end": null,
"aa_length": 2952,
"cds_start": 8705,
"cds_end": null,
"cds_length": 8859,
"cdna_start": 8927,
"cdna_end": null,
"cdna_length": 11171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8558T>G",
"hgvs_p": "p.Met2853Arg",
"transcript": "NM_004459.7",
"protein_id": "NP_004450.3",
"transcript_support_level": null,
"aa_start": 2853,
"aa_end": null,
"aa_length": 2903,
"cds_start": 8558,
"cds_end": null,
"cds_length": 8712,
"cdna_start": 8780,
"cdna_end": null,
"cdna_length": 11024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8558T>G",
"hgvs_p": "p.Met2853Arg",
"transcript": "NM_001439142.1",
"protein_id": "NP_001426071.1",
"transcript_support_level": null,
"aa_start": 2853,
"aa_end": null,
"aa_length": 2893,
"cds_start": 8558,
"cds_end": null,
"cds_length": 8682,
"cdna_start": 8780,
"cdna_end": null,
"cdna_length": 9224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8369T>G",
"hgvs_p": "p.Met2790Arg",
"transcript": "NM_001439143.1",
"protein_id": "NP_001426072.1",
"transcript_support_level": null,
"aa_start": 2790,
"aa_end": null,
"aa_length": 2840,
"cds_start": 8369,
"cds_end": null,
"cds_length": 8523,
"cdna_start": 8591,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.8369T>G",
"hgvs_p": "p.Met2790Arg",
"transcript": "NM_001439144.1",
"protein_id": "NP_001426073.1",
"transcript_support_level": null,
"aa_start": 2790,
"aa_end": null,
"aa_length": 2840,
"cds_start": 8369,
"cds_end": null,
"cds_length": 8523,
"cdna_start": 8591,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.1136T>G",
"hgvs_p": "p.Met379Arg",
"transcript": "ENST00000581258.5",
"protein_id": "ENSP00000463845.1",
"transcript_support_level": 2,
"aa_start": 379,
"aa_end": null,
"aa_length": 419,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1138,
"cdna_end": null,
"cdna_length": 1582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.38T>G",
"hgvs_p": "p.Met13Arg",
"transcript": "ENST00000577837.1",
"protein_id": "ENSP00000462703.1",
"transcript_support_level": 3,
"aa_start": 13,
"aa_end": null,
"aa_length": 63,
"cds_start": 38,
"cds_end": null,
"cds_length": 192,
"cdna_start": 40,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9323T>G",
"hgvs_p": "p.Met3108Arg",
"transcript": "XM_005257150.4",
"protein_id": "XP_005257207.1",
"transcript_support_level": null,
"aa_start": 3108,
"aa_end": null,
"aa_length": 3158,
"cds_start": 9323,
"cds_end": null,
"cds_length": 9477,
"cdna_start": 9545,
"cdna_end": null,
"cdna_length": 11789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9320T>G",
"hgvs_p": "p.Met3107Arg",
"transcript": "XM_005257151.4",
"protein_id": "XP_005257208.1",
"transcript_support_level": null,
"aa_start": 3107,
"aa_end": null,
"aa_length": 3157,
"cds_start": 9320,
"cds_end": null,
"cds_length": 9474,
"cdna_start": 9542,
"cdna_end": null,
"cdna_length": 11786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9320T>G",
"hgvs_p": "p.Met3107Arg",
"transcript": "XM_011524520.3",
"protein_id": "XP_011522822.1",
"transcript_support_level": null,
"aa_start": 3107,
"aa_end": null,
"aa_length": 3157,
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"cdna_start": 9542,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9323T>G",
"hgvs_p": "p.Met3108Arg",
"transcript": "XM_005257152.4",
"protein_id": "XP_005257209.1",
"transcript_support_level": null,
"aa_start": 3108,
"aa_end": null,
"aa_length": 3148,
"cds_start": 9323,
"cds_end": null,
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"cdna_start": 9545,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9161T>G",
"hgvs_p": "p.Met3054Arg",
"transcript": "XM_005257153.4",
"protein_id": "XP_005257210.1",
"transcript_support_level": null,
"aa_start": 3054,
"aa_end": null,
"aa_length": 3104,
"cds_start": 9161,
"cds_end": null,
"cds_length": 9315,
"cdna_start": 9383,
"cdna_end": null,
"cdna_length": 11627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.9149T>G",
"hgvs_p": "p.Met3050Arg",
"transcript": "XM_005257154.4",
"protein_id": "XP_005257211.1",
"transcript_support_level": null,
"aa_start": 3050,
"aa_end": null,
"aa_length": 3100,
"cds_start": 9149,
"cds_end": null,
"cds_length": 9303,
"cdna_start": 9371,
"cdna_end": null,
"cdna_length": 11615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
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{
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{
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],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies|Secondary microcephaly;Expressive language delay;Global developmental delay",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}