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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: 10-86919369-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86919369&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86919369,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372037.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_004329.3",
"protein_id": "NP_004320.2",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "ENST00000372037.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "ENST00000372037.8",
"protein_id": "ENSP00000361107.2",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1634,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "NM_004329.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Pro381Thr",
"transcript": "NM_001406559.1",
"protein_id": "NP_001393488.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 557,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1114C>A",
"hgvs_p": "p.Pro372Thr",
"transcript": "NM_001406560.1",
"protein_id": "NP_001393489.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 548,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406561.1",
"protein_id": "NP_001393490.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1739,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406562.1",
"protein_id": "NP_001393491.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406563.1",
"protein_id": "NP_001393492.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 6814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406564.1",
"protein_id": "NP_001393493.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406565.1",
"protein_id": "NP_001393494.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1894,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406566.1",
"protein_id": "NP_001393495.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1534,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406567.1",
"protein_id": "NP_001393496.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1560,
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"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406568.1",
"protein_id": "NP_001393497.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
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"cdna_start": 1675,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406569.1",
"protein_id": "NP_001393498.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
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"cdna_start": 1948,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "T",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406570.1",
"protein_id": "NP_001393499.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406571.1",
"protein_id": "NP_001393500.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 532,
"cds_start": 1066,
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"cdna_start": 2053,
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"cdna_length": 6836,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406572.1",
"protein_id": "NP_001393501.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406573.1",
"protein_id": "NP_001393502.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
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"cds_start": 1066,
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"cdna_start": 1665,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406574.1",
"protein_id": "NP_001393503.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
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"cds_start": 1066,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406575.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406576.1",
"protein_id": "NP_001393505.1",
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},
{
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"strand": true,
"consequences": [
"missense_variant"
],
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"intron_rank": null,
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"gene_symbol": "BMPR1A",
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"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406577.1",
"protein_id": "NP_001393506.1",
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"cdna_start": 1953,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr",
"transcript": "NM_001406578.1",
"protein_id": "NP_001393507.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
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"cdna_start": 1926,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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},
{
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},
{
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},
{
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"consequences": [
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"gene_symbol": "BMPR1A",
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},
{
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"3_prime_UTR_variant"
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"gene_symbol": "BMPR1A",
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"transcript": "ENST00000713674.1",
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}
],
"gene_symbol": "BMPR1A",
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"dbsnp": "rs774555805",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"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": 0.9381959438323975,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.916,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.976,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.902,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000372037.8",
"gene_symbol": "BMPR1A",
"hgnc_id": 1076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1066C>A",
"hgvs_p": "p.Pro356Thr"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Juvenile polyposis syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}