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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: 10-86899878-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86899878&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86899878,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001406559.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_004329.3",
"protein_id": "NP_004320.2",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372037.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004329.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "ENST00000372037.8",
"protein_id": "ENSP00000361107.2",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004329.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372037.8"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406559.1",
"protein_id": "NP_001393488.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 557,
"cds_start": 418,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406559.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406560.1",
"protein_id": "NP_001393489.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 548,
"cds_start": 418,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406560.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "ENST00000926286.1",
"protein_id": "ENSP00000596345.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 548,
"cds_start": 418,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926286.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406561.1",
"protein_id": "NP_001393490.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406561.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406562.1",
"protein_id": "NP_001393491.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406562.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406563.1",
"protein_id": "NP_001393492.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406563.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406564.1",
"protein_id": "NP_001393493.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406564.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406565.1",
"protein_id": "NP_001393494.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406565.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406566.1",
"protein_id": "NP_001393495.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406566.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406567.1",
"protein_id": "NP_001393496.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406567.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406568.1",
"protein_id": "NP_001393497.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406568.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406569.1",
"protein_id": "NP_001393498.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406569.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406570.1",
"protein_id": "NP_001393499.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406570.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406571.1",
"protein_id": "NP_001393500.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406571.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406572.1",
"protein_id": "NP_001393501.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406572.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406573.1",
"protein_id": "NP_001393502.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406573.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406574.1",
"protein_id": "NP_001393503.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406574.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406575.1",
"protein_id": "NP_001393504.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406575.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406576.1",
"protein_id": "NP_001393505.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406576.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser",
"transcript": "NM_001406577.1",
"protein_id": "NP_001393506.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 532,
"cds_start": 418,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"gene_symbol": "BMPR1A",
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"dbsnp": "rs138478597",
"frequency_reference_population": 0.0000049566297,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000410458,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8068654537200928,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.557,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2176,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.79,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,PP3,BS2",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 4,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001406559.1",
"gene_symbol": "BMPR1A",
"hgnc_id": 1076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Pro140Ser"
}
],
"clinvar_disease": " 2, hereditary mixed,Hereditary cancer-predisposing syndrome,Juvenile polyposis syndrome,Polyposis syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Polyposis syndrome, hereditary mixed, 2|Juvenile polyposis syndrome|not specified|Hereditary cancer-predisposing syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}