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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: 2-187467037-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=187467037&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 187467037,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006287.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_006287.6",
"protein_id": "NP_006278.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233156.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006287.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000233156.9",
"protein_id": "ENSP00000233156.3",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233156.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001329239.2",
"protein_id": "NP_001316168.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329239.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001329240.2",
"protein_id": "NP_001316169.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329240.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "NM_001329241.2",
"protein_id": "NP_001316170.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329241.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000392365.5",
"protein_id": "ENSP00000376172.1",
"transcript_support_level": 5,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392365.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897898.1",
"protein_id": "ENSP00000567957.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897898.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897900.1",
"protein_id": "ENSP00000567959.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897900.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897901.1",
"protein_id": "ENSP00000567960.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897901.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897902.1",
"protein_id": "ENSP00000567961.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897902.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897903.1",
"protein_id": "ENSP00000567962.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897903.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897910.1",
"protein_id": "ENSP00000567969.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897910.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897913.1",
"protein_id": "ENSP00000567972.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897913.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897914.1",
"protein_id": "ENSP00000567973.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897914.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897915.1",
"protein_id": "ENSP00000567974.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897915.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897918.1",
"protein_id": "ENSP00000567977.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897918.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897919.1",
"protein_id": "ENSP00000567978.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897919.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897920.1",
"protein_id": "ENSP00000567979.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897920.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897921.1",
"protein_id": "ENSP00000567980.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897921.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897922.1",
"protein_id": "ENSP00000567981.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897922.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897923.1",
"protein_id": "ENSP00000567982.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897923.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TFPI",
"gene_hgnc_id": 11760,
"hgvs_c": "c.814A>G",
"hgvs_p": "p.Ile272Val",
"transcript": "ENST00000897924.1",
"protein_id": "ENSP00000567983.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 304,
"cds_start": 814,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
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{
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
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"effects": [
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{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
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"gene_symbol": "CALCRL-AS1",
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"effects": [
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],
"inheritance_mode": "",
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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
}