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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: 4-86693654-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=86693654&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 86693654,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_080683.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "NM_080683.3",
"protein_id": "NP_542414.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2485,
"cds_start": 614,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8548,
"mane_select": "ENST00000411767.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000411767.7",
"protein_id": "ENSP00000407249.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 2485,
"cds_start": 614,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8548,
"mane_select": "NM_080683.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000427191.6",
"protein_id": "ENSP00000408368.2",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 2466,
"cds_start": 614,
"cds_end": null,
"cds_length": 7401,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000316707.10",
"protein_id": "ENSP00000322675.6",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 2294,
"cds_start": 614,
"cds_end": null,
"cds_length": 6885,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 7546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "NM_080685.3",
"protein_id": "NP_542416.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2490,
"cds_start": 614,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000436978.5",
"protein_id": "ENSP00000394794.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 2490,
"cds_start": 614,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "ENST00000511467.1",
"protein_id": "ENSP00000426626.1",
"transcript_support_level": 2,
"aa_start": 205,
"aa_end": null,
"aa_length": 2490,
"cds_start": 614,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 8076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "NM_006264.3",
"protein_id": "NP_006255.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2466,
"cds_start": 614,
"cds_end": null,
"cds_length": 7401,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "NM_080684.3",
"protein_id": "NP_542415.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2294,
"cds_start": 614,
"cds_end": null,
"cds_length": 6885,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 7975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_011532165.3",
"protein_id": "XP_011530467.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2507,
"cds_start": 614,
"cds_end": null,
"cds_length": 7524,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_017008511.3",
"protein_id": "XP_016864000.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2502,
"cds_start": 614,
"cds_end": null,
"cds_length": 7509,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_017008512.3",
"protein_id": "XP_016864001.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2488,
"cds_start": 614,
"cds_end": null,
"cds_length": 7467,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_017008513.3",
"protein_id": "XP_016864002.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2483,
"cds_start": 614,
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"cds_length": 7452,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 8542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_017008514.3",
"protein_id": "XP_016864003.1",
"transcript_support_level": null,
"aa_start": 205,
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"cds_start": 614,
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"cdna_start": 1094,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.299G>A",
"hgvs_p": "p.Arg100Gln",
"transcript": "XM_047416036.1",
"protein_id": "XP_047271992.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 2402,
"cds_start": 299,
"cds_end": null,
"cds_length": 7209,
"cdna_start": 3930,
"cdna_end": null,
"cdna_length": 11450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_017008515.3",
"protein_id": "XP_016864004.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_017008516.3",
"protein_id": "XP_016864005.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2316,
"cds_start": 614,
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"cds_length": 6951,
"cdna_start": 1094,
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"cdna_length": 8041,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_047416037.1",
"protein_id": "XP_047271993.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2315,
"cds_start": 614,
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"cds_length": 6948,
"cdna_start": 1094,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
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"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_047416038.1",
"protein_id": "XP_047271994.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_047416039.1",
"protein_id": "XP_047271995.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"intron_rank": null,
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"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_047416040.1",
"protein_id": "XP_047271996.1",
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"cds_start": 614,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205Gln",
"transcript": "XM_047416041.1",
"protein_id": "XP_047271997.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 2299,
"cds_start": 614,
"cds_end": null,
"cds_length": 6900,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 7990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN13",
"gene_hgnc_id": 9646,
"hgvs_c": "c.614G>A",
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}
],
"gene_symbol": "PTPN13",
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"dbsnp": "rs780857816",
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"hom_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 1,
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{
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"BP4"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}